ClinVar Miner

List of variants studied for Usher syndrome type 1 by Mendelics

Included ClinVar conditions (16):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 9
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HGVS dbSNP
NM_000260.4(MYO7A):c.1997G>A (p.Arg666Gln) rs782396605
NM_000260.4(MYO7A):c.3527G>A (p.Ser1176Asn) rs373147966
NM_001142771.2(PCDH15):c.4982A>C (p.Gln1661Pro) rs17704703
NM_033056.4(PCDH15):c.1138G>A (p.Gly380Ser) rs10825269
NM_033056.4(PCDH15):c.1304A>C (p.Asp435Ala) rs4935502
NM_033056.4(PCDH15):c.1863T>G (p.Tyr621Ter) rs1590691343
NM_033056.4(PCDH15):c.2645_2646del (p.Asp881_Tyr882insTer) rs1589950125
NM_033056.4(PCDH15):c.2884C>T (p.Arg962Cys) rs201816080
NM_153676.4(USH1C):c.2457G>C (p.Glu819Asp) rs1064074

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