ClinVar Miner

List of variants studied for autosomal dominant nonsyndromic hearing loss 1 by Centre for Mendelian Genomics, University Medical Centre Ljubljana

Included ClinVar conditions (2):

Autosomal dominant nonsyndromic hearing loss 1
Autosomal dominant nonsyndromic hearing loss 1; Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome

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

Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_005219.5(DIAPH1):c.3641G>A (p.Arg1214Gln)	rs373679838	0.00001
NM_005219.5(DIAPH1):c.2733G>T (p.Lys911Asn)	rs767712795
NM_005219.5(DIAPH1):c.3162C>A (p.Asn1054Lys)	rs1409823509

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