ClinVar Miner

List of variants studied for Delpire-McNeill syndrome by New York Genome Center

Included ClinVar conditions (3):

Delpire-McNeill syndrome
Kilquist syndrome; Delpire-McNeill syndrome
Kilquist syndrome; Hearing loss, autosomal dominant 78; Delpire-McNeill 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_001046.3(SLC12A2):c.1226T>C (p.Ile409Thr)	rs1485381198	0.00002
NM_001046.3(SLC12A2):c.2616+1547G>T	rs2126736189
NM_001046.3(SLC12A2):c.3566C>T (p.Ala1189Val)	rs768256710

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