ClinVar Miner

List of variants in gene TRPV4 reported as likely benign for Charcot-Marie-Tooth disease

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Total variants: 47
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HGVS dbSNP
NM_021625.4(TRPV4):c.1278G>A (p.Thr426=) rs139179261
NM_021625.4(TRPV4):c.1308C>T (p.Ile436=) rs141244183
NM_021625.4(TRPV4):c.1464C>T (p.Thr488=) rs146841400
NM_021625.4(TRPV4):c.1491+10C>T rs201815805
NM_021625.4(TRPV4):c.1539C>T (p.Gly513=) rs141295418
NM_021625.4(TRPV4):c.1546A>G (p.Ile516Val) rs115976458
NM_021625.4(TRPV4):c.1584+12G>T rs375908611
NM_021625.4(TRPV4):c.1656del (p.Tyr553fs) rs541606391
NM_021625.4(TRPV4):c.1658+15C>T rs200083069
NM_021625.4(TRPV4):c.1824+4C>T rs147259744
NM_021625.4(TRPV4):c.1825-15C>G rs200602134
NM_021625.4(TRPV4):c.1825-15C>T rs200602134
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.2043C>T (p.Gly681=) rs375633647
NM_021625.4(TRPV4):c.2248G>A (p.Val750Ile) rs148171058
NM_021625.4(TRPV4):c.2304G>C (p.Ser768=) rs138986228
NM_021625.4(TRPV4):c.2472G>A (p.Ser824=) rs149988106
NM_021625.4(TRPV4):c.2498A>G (p.Asn833Ser) rs116035946
NM_021625.4(TRPV4):c.2517C>T (p.Asp839=) rs546957932
NM_021625.4(TRPV4):c.28G>C (p.Ala10Pro) rs376436045
NM_021625.4(TRPV4):c.549G>A (p.Glu183=) rs141908793
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.854-4G>A rs371733585
NM_021625.4(TRPV4):c.903C>G (p.Val301=) rs748103823
NM_021625.4(TRPV4):c.936G>A (p.Ala312=) rs202084699
NM_021625.5(TRPV4):c.1152+12G>T
NM_021625.5(TRPV4):c.1152+15dup
NM_021625.5(TRPV4):c.1404C>T (p.Ala468=) rs138301077
NM_021625.5(TRPV4):c.1492-17C>T
NM_021625.5(TRPV4):c.1585-15C>A
NM_021625.5(TRPV4):c.1824+14G>A
NM_021625.5(TRPV4):c.1824+5G>A
NM_021625.5(TRPV4):c.1827T>A (p.Ile609=) rs757493897
NM_021625.5(TRPV4):c.1977G>A (p.Ser659=)
NM_021625.5(TRPV4):c.2092C>T (p.Leu698=) rs774321681
NM_021625.5(TRPV4):c.2157C>T (p.Gly719=)
NM_021625.5(TRPV4):c.2336+10G>C
NM_021625.5(TRPV4):c.2349G>C (p.Val783=)
NM_021625.5(TRPV4):c.2610G>A (p.Pro870=)
NM_021625.5(TRPV4):c.396G>T (p.Pro132=)
NM_021625.5(TRPV4):c.615C>A (p.Gly205=)
NM_021625.5(TRPV4):c.732C>T (p.Ile244=) rs142647385
NM_021625.5(TRPV4):c.760G>C (p.Val254Leu) rs143548402
NM_021625.5(TRPV4):c.834G>A (p.Glu278=)

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