ClinVar Miner

List of variants reported as likely pathogenic for Usher syndrome by Baylor Genetics

Included ClinVar conditions (31):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 10
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NM_000260.4(MYO7A):c.1085_1086del (p.Asn362fs)
NM_000260.4(MYO7A):c.1168C>T (p.Gln390Ter)
NM_000260.4(MYO7A):c.2355del (p.Asn786fs)
NM_000260.4(MYO7A):c.2837T>G (p.Met946Arg)
NM_022124.6(CDH23):c.1282G>A (p.Asp428Asn)
NM_033056.4(PCDH15):c.556C>T (p.Gln186Ter)
NM_052995.2(CLRN1):c.140C>A (p.Ala47Asp) rs374963432
NM_153676.4(USH1C):c.311G>A (p.Gly104Asp) rs1317951509
NM_206933.4(USH2A):c.13782_13794delinsCCTAC (p.Ile4595fs)
NM_206933.4(USH2A):c.1521T>A (p.Tyr507Ter)

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