ClinVar Miner

List of variants studied for Dursun-Ozgul neurodevelopmental syndrome

Included ClinVar conditions (1):

Dursun-Ozgul neurodevelopmental syndrome

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions

Total variants: 6

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HGVS	dbSNP	gnomAD frequency
ELFN1, 92-KB DEL
NM_001128636.4(ELFN1):c.128_137del (p.Ile43fs)
NM_001128636.4(ELFN1):c.149C>A (p.Pro50His)
NM_001128636.4(ELFN1):c.1767del (p.Val591fs)
NM_001128636.4(ELFN1):c.42_49del (p.Ala15fs)	rs2128605586
NM_001128636.4(ELFN1):c.475_477del (p.Val159del)

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