ClinVar Miner

List of variants studied for Usher syndrome by Baylor Genetics

Included ClinVar conditions (31):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 30
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HGVS dbSNP
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.2476G>A (p.Ala826Thr) rs368341987
NM_000260.4(MYO7A):c.2837T>G (p.Met946Arg)
NM_000260.4(MYO7A):c.3764del (p.Lys1255fs) rs111033347
NM_000260.4(MYO7A):c.3872_3873TC[3] (p.Leu1293fs)
NM_000260.4(MYO7A):c.5824G>T (p.Gly1942Ter) rs111033192
NM_001195794.1(CLRN1):c.144T>G (p.Asn48Lys) rs111033258
NM_005709.3(USH1C):c.238dupC (p.Arg80Profs) rs397515359
NM_007123.5(USH2A):c.2299del (p.Glu767fs) rs80338903
NM_022124.6(CDH23):c.1282G>A (p.Asp428Asn)
NM_022124.6(CDH23):c.7872G>A (p.Glu2624=)
NM_033056.4(PCDH15):c.556C>T (p.Gln186Ter)
NM_033056.4(PCDH15):c.733C>T (p.Arg245Ter) rs111033260
NM_052995.2(CLRN1):c.140C>A (p.Ala47Asp) rs374963432
NM_153676.4(USH1C):c.2014-1G>A rs150567427
NM_153676.4(USH1C):c.2167C>T (p.Gln723Ter) rs146451547
NM_153676.4(USH1C):c.311G>A (p.Gly104Asp) rs1317951509
NM_206933.3(USH2A):c.13621C>T (p.Gln4541Ter) rs765476745
NM_206933.3(USH2A):c.15178T>C (p.Ser5060Pro) rs752377040
NM_206933.3(USH2A):c.2802T>G (p.Cys934Trp) rs201527662
NM_206933.3(USH2A):c.8254G>A (p.Gly2752Arg)
NM_206933.4(USH2A):c.11754G>A (p.Trp3918Ter)
NM_206933.4(USH2A):c.11864G>A (p.Trp3955Ter) rs111033364
NM_206933.4(USH2A):c.12575G>A (p.Arg4192His) rs199605265
NM_206933.4(USH2A):c.13782_13794delinsCCTAC (p.Ile4595fs)
NM_206933.4(USH2A):c.1521T>A (p.Tyr507Ter)
NM_206933.4(USH2A):c.2276G>T (p.Cys759Phe) rs80338902
NM_206933.4(USH2A):c.532dup (p.Thr178fs)

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