List of variants in gene MPZL2 studied for Hearing loss, autosomal recessive 111

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes

Total variants: 17

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HGVS	dbSNP	gnomAD frequency
NM_005797.4(MPZL2):c.278A>T (p.Asp93Val)	rs74543584	0.00309
NM_005797.4(MPZL2):c.72del (p.Ile24fs)	rs752672077	0.00067
NM_005797.4(MPZL2):c.544C>T (p.Arg182Ter)	rs200462584	0.00024
NM_005797.4(MPZL2):c.220C>T (p.Gln74Ter)	rs146689036	0.00015
NM_005797.4(MPZL2):c.161del (p.Pro54fs)	rs746218761
NM_005797.4(MPZL2):c.226-1G>A	rs1949708829
NM_005797.4(MPZL2):c.280C>T (p.Arg94Trp)	rs145401372
NM_005797.4(MPZL2):c.2T>C (p.Met1Thr)
NM_005797.4(MPZL2):c.319_320dup (p.Ile108fs)	rs2134734280
NM_005797.4(MPZL2):c.3G>T (p.Met1Ile)	rs748685997
NM_005797.4(MPZL2):c.417del (p.Leu140fs)	rs777960413
NM_005797.4(MPZL2):c.463del (p.Ala155fs)	rs759432278
NM_005797.4(MPZL2):c.500dup (p.Ile168fs)
NM_005797.4(MPZL2):c.537dup (p.Lys180fs)
NM_005797.4(MPZL2):c.584+1G>A
NM_005797.4(MPZL2):c.68del (p.Pro23fs)	rs1167608859
NM_005797.4(MPZL2):c.[220C>T];[463del]

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