ClinVar Miner

List of variants reported as likely benign for Charcot-Marie-Tooth disease axonal type 2C by Invitae

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 48
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HGVS dbSNP
NM_021625.4(TRPV4):c.1062C>T (p.Ala354=) rs115446386
NM_021625.4(TRPV4):c.1074C>T (p.Pro358=) rs140040335
NM_021625.4(TRPV4):c.1093G>A (p.Val365Met) rs570675468
NM_021625.4(TRPV4):c.1104C>T (p.Asn368=) rs768593770
NM_021625.4(TRPV4):c.1116G>A (p.Ser372=) rs369811541
NM_021625.4(TRPV4):c.1278G>A (p.Thr426=) rs139179261
NM_021625.4(TRPV4):c.1337G>T (p.Arg446Leu) rs143502097
NM_021625.4(TRPV4):c.1378C>T (p.Arg460Trp) rs34227547
NM_021625.4(TRPV4):c.1398C>T (p.Phe466=) rs146929022
NM_021625.4(TRPV4):c.1449C>G (p.Val483=) rs1060504550
NM_021625.4(TRPV4):c.1455C>T (p.Phe485=) rs189872222
NM_021625.4(TRPV4):c.1464C>T (p.Thr488=) rs146841400
NM_021625.4(TRPV4):c.1479G>T (p.Pro493=) rs1337838267
NM_021625.4(TRPV4):c.1491+10C>T rs201815805
NM_021625.4(TRPV4):c.152C>T (p.Pro51Leu) rs115861965
NM_021625.4(TRPV4):c.1546A>G (p.Ile516Val) rs115976458
NM_021625.4(TRPV4):c.1566C>G (p.Val522=) rs765724064
NM_021625.4(TRPV4):c.1584+1G>A rs775922797
NM_021625.4(TRPV4):c.15C>T (p.Ser5=) rs751824781
NM_021625.4(TRPV4):c.1611C>T (p.Cys537=) rs1407714132
NM_021625.4(TRPV4):c.1899C>T (p.Val633=) rs753027239
NM_021625.4(TRPV4):c.1913C>T (p.Pro638Leu) rs35058636
NM_021625.4(TRPV4):c.2151C>A (p.Leu717=) rs1555205372
NM_021625.4(TRPV4):c.2244C>T (p.Phe748=) rs1340974810
NM_021625.4(TRPV4):c.2248G>A (p.Val750Ile) rs148171058
NM_021625.4(TRPV4):c.2295C>G (p.Gly765=) rs753038628
NM_021625.4(TRPV4):c.2304G>A (p.Ser768=) rs138986228
NM_021625.4(TRPV4):c.2320C>T (p.Arg774Cys) rs145102919
NM_021625.4(TRPV4):c.2472G>A (p.Ser824=) rs149988106
NM_021625.4(TRPV4):c.2508G>A (p.Ser836=) rs201884175
NM_021625.4(TRPV4):c.2514G>A (p.Pro838=) rs576688961
NM_021625.4(TRPV4):c.300G>A (p.Lys100=) rs370135765
NM_021625.4(TRPV4):c.336C>A (p.Thr112=) rs969086736
NM_021625.4(TRPV4):c.387-6C>T rs775634013
NM_021625.4(TRPV4):c.501C>T (p.Asp167=) rs77680510
NM_021625.4(TRPV4):c.712+10C>T rs115657305
NM_021625.4(TRPV4):c.760G>A (p.Val254Met) rs143548402
NM_021625.4(TRPV4):c.769C>G (p.Leu257Val) rs56217500
NM_021625.4(TRPV4):c.898A>G (p.Ile300Val) rs114612488
NM_021625.4(TRPV4):c.903C>G (p.Val301=) rs748103823
NM_021625.5(TRPV4):c.1311G>C (p.Leu437=) rs148225182
NM_021625.5(TRPV4):c.1421A>G (p.Asn474Ser) rs150461804
NM_021625.5(TRPV4):c.1683C>T (p.Ile561=) rs780088701
NM_021625.5(TRPV4):c.1728C>T (p.Ala576=) rs149742074
NM_021625.5(TRPV4):c.1827T>A (p.Ile609=) rs757493897
NM_021625.5(TRPV4):c.1884C>T (p.Tyr628=) rs369752162
NM_021625.5(TRPV4):c.732C>T (p.Ile244=) rs142647385
NM_021625.5(TRPV4):c.760G>C (p.Val254Leu) rs143548402

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