ClinVar Miner

List of variants studied for Usher syndrome type 2D by OMIM

Included ClinVar conditions (2):

Autosomal recessive nonsyndromic hearing loss 31; Usher syndrome type 2D
Usher syndrome type 2D

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

Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_015404.4(WHRN):c.307C>T (p.Gln103Ter)	rs137852840
NM_015404.4(WHRN):c.680dup (p.Tyr228fs)	rs1306987034
NM_015404.4(WHRN):c.737del (p.Pro246fs)	rs1589229634
NM_015404.4(WHRN):c.837+1G>A	rs2133130286

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