ClinVar Miner

List of variants studied for Jawad syndrome by 3billion

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_002894.3(RBBP8):c.2024C>T (p.Thr675Ile) rs186820592 0.00005
NM_002894.3(RBBP8):c.1223_1228del (p.Ile408_Asn409del) rs757747543
NM_002894.3(RBBP8):c.2287+1G>A rs2045952037

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