ClinVar Miner

List of variants reported as likely pathogenic for Usher syndrome by ClinGen Hearing Loss Variant Curation Expert Panel

Included ClinVar conditions (31):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 12
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HGVS dbSNP
NM_000260.4(MYO7A):c.1208A>G (p.Tyr403Cys) rs797044511
NM_000260.4(MYO7A):c.3546C>A (p.Asn1182Lys) rs1555090294
NM_000260.4(MYO7A):c.6326C>T (p.Thr2109Ile) rs377670513
NM_000260.4(MYO7A):c.6560G>A (p.Gly2187Asp) rs397516332
NM_022124.6(CDH23):c.380A>G (p.Asp127Gly) rs876657754
NM_206933.3(USH2A):c.12295-?_14133+?del
NM_206933.3(USH2A):c.2081G>A (p.Cys694Tyr) rs137954284
NM_206933.3(USH2A):c.3543_3544AT[2] (p.Ile1183fs) rs397518013
NM_206933.4(USH2A):c.12295-3T>A rs111033518
NM_206933.4(USH2A):c.3407G>A (p.Ser1136Asn) rs483353055
NM_206933.4(USH2A):c.5857+2T>C rs397518022
NM_206933.4(USH2A):c.956G>A (p.Cys319Tyr) rs121912599

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