ClinVar Miner

List of variants in gene WASHC5 reported as likely benign for Ritscher-Schinzel syndrome 1

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 141
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HGVS dbSNP gnomAD frequency
NM_014846.4(WASHC5):c.867A>C (p.Val289=) rs79464415 0.00491
NM_014846.4(WASHC5):c.617A>G (p.Asn206Ser) rs150026441 0.00235
NM_014846.4(WASHC5):c.2199+5C>G rs149763012 0.00100
NM_014846.4(WASHC5):c.647C>T (p.Pro216Leu) rs72720524 0.00098
NM_014846.4(WASHC5):c.3181+4C>T rs372154199 0.00073
NM_014846.4(WASHC5):c.316A>G (p.Ile106Val) rs142907217 0.00053
NM_014846.4(WASHC5):c.1945A>G (p.Ile649Val) rs774897141 0.00031
NM_014846.4(WASHC5):c.2017-13T>C rs74458977 0.00021
NM_014846.4(WASHC5):c.555T>C (p.Asp185=) rs145934920 0.00016
NM_014846.4(WASHC5):c.405A>G (p.Gly135=) rs529518868 0.00013
NM_014846.4(WASHC5):c.187-6T>C rs200227798 0.00012
NM_014846.4(WASHC5):c.2332A>G (p.Ile778Val) rs146623998 0.00012
NM_014846.4(WASHC5):c.2829G>A (p.Ala943=) rs369339497 0.00012
NM_014846.4(WASHC5):c.1007G>C (p.Arg336Thr) rs150430170 0.00011
NM_014846.4(WASHC5):c.2098-13G>A rs375720047 0.00011
NM_014846.4(WASHC5):c.552C>T (p.Asp184=) rs140203497 0.00011
NM_014846.4(WASHC5):c.639G>C (p.Gln213His) rs141234822 0.00011
NM_014846.4(WASHC5):c.1942G>A (p.Asp648Asn) rs758919422 0.00009
NM_014846.4(WASHC5):c.2139G>A (p.Glu713=) rs201066199 0.00009
NM_014846.4(WASHC5):c.1522-10T>A rs200283018 0.00007
NM_014846.4(WASHC5):c.2580C>T (p.Leu860=) rs375214976 0.00007
NM_014846.4(WASHC5):c.451C>T (p.Leu151=) rs6470336 0.00007
NM_014846.4(WASHC5):c.18C>T (p.Ala6=) rs17852424 0.00006
NM_014846.4(WASHC5):c.2151C>T (p.Arg717=) rs766145087 0.00006
NM_014846.4(WASHC5):c.1866T>C (p.Tyr622=) rs202216835 0.00005
NM_014846.4(WASHC5):c.2013C>T (p.Tyr671=) rs769262318 0.00005
NM_014846.4(WASHC5):c.1830C>T (p.Ser610=) rs190138661 0.00004
NM_014846.4(WASHC5):c.2076G>A (p.Thr692=) rs746121315 0.00004
NM_014846.4(WASHC5):c.2238G>A (p.Ala746=) rs376307168 0.00004
NM_014846.4(WASHC5):c.612A>G (p.Pro204=) rs376240904 0.00004
NM_014846.4(WASHC5):c.1173C>A (p.Arg391=) rs1344658074 0.00003
NM_014846.4(WASHC5):c.1779C>T (p.Leu593=) rs147434450 0.00003
NM_014846.4(WASHC5):c.777C>T (p.Tyr259=) rs781517421 0.00003
NM_014846.4(WASHC5):c.1668C>T (p.Phe556=) rs199725572 0.00002
NM_014846.4(WASHC5):c.1689-4A>G rs777297323 0.00002
NM_014846.4(WASHC5):c.1968G>A (p.Leu656=) rs750122277 0.00002
NM_014846.4(WASHC5):c.2025G>A (p.Lys675=) rs769221945 0.00002
NM_014846.4(WASHC5):c.2380-6T>C rs375887732 0.00002
NM_014846.4(WASHC5):c.417+9T>C rs758034244 0.00002
NM_014846.4(WASHC5):c.1521+10C>T rs760233617 0.00001
NM_014846.4(WASHC5):c.1611C>G (p.Thr537=) rs1375065582 0.00001
NM_014846.4(WASHC5):c.1650C>T (p.Ile550=) rs780912744 0.00001
NM_014846.4(WASHC5):c.1688+10G>A rs200755877 0.00001
NM_014846.4(WASHC5):c.1728A>G (p.Pro576=) rs767965256 0.00001
NM_014846.4(WASHC5):c.1785G>T (p.Leu595=) rs1044612540 0.00001
NM_014846.4(WASHC5):c.2098-6A>G rs984555140 0.00001
NM_014846.4(WASHC5):c.2199+14A>G rs754889043 0.00001
NM_014846.4(WASHC5):c.2379+8A>T rs1198647443 0.00001
NM_014846.4(WASHC5):c.2955-10C>G rs1388469388 0.00001
NM_014846.4(WASHC5):c.348C>T (p.Leu116=) rs1817292048 0.00001
NM_014846.4(WASHC5):c.435A>G (p.Leu145=) rs145842027 0.00001
NM_014846.4(WASHC5):c.518+12C>T rs776771436 0.00001
NM_014846.4(WASHC5):c.654C>T (p.Asn218=) rs144085283 0.00001
NM_014846.4(WASHC5):c.735G>C (p.Glu245Asp) rs765982075 0.00001
NM_014846.4(WASHC5):c.885G>A (p.Gly295=) rs1435894101 0.00001
NM_014846.4(WASHC5):c.975A>G (p.Glu325=) rs773768832 0.00001
NM_014846.4(WASHC5):c.1005A>G (p.Glu335=)
NM_014846.4(WASHC5):c.1074T>C (p.Asn358=)
NM_014846.4(WASHC5):c.1089G>A (p.Leu363=)
NM_014846.4(WASHC5):c.1140A>G (p.Thr380=)
NM_014846.4(WASHC5):c.1151-16C>T
NM_014846.4(WASHC5):c.1151-17A>T
NM_014846.4(WASHC5):c.117G>A (p.Val39=)
NM_014846.4(WASHC5):c.1278+13G>T
NM_014846.4(WASHC5):c.1278+9A>G
NM_014846.4(WASHC5):c.1341G>A (p.Ser447=)
NM_014846.4(WASHC5):c.1341G>T (p.Ser447=) rs763975296
NM_014846.4(WASHC5):c.1345C>A (p.Arg449=) rs886062653
NM_014846.4(WASHC5):c.1409-8A>C rs878854986
NM_014846.4(WASHC5):c.1413C>T (p.Asn471=)
NM_014846.4(WASHC5):c.1450T>C (p.Leu484=)
NM_014846.4(WASHC5):c.1473T>C (p.Ser491=)
NM_014846.4(WASHC5):c.1522-20A>G
NM_014846.4(WASHC5):c.1578T>C (p.Asp526=) rs1340926359
NM_014846.4(WASHC5):c.1688+10del rs757113799
NM_014846.4(WASHC5):c.1689-19G>A
NM_014846.4(WASHC5):c.1764+14A>G
NM_014846.4(WASHC5):c.1765-19T>A
NM_014846.4(WASHC5):c.1765-3dup
NM_014846.4(WASHC5):c.1788C>G (p.Pro596=)
NM_014846.4(WASHC5):c.186+14A>C
NM_014846.4(WASHC5):c.186+16A>C
NM_014846.4(WASHC5):c.187-18T>C
NM_014846.4(WASHC5):c.187-19_187-18del
NM_014846.4(WASHC5):c.187-5C>A
NM_014846.4(WASHC5):c.1875+14C>T
NM_014846.4(WASHC5):c.1876-11T>C
NM_014846.4(WASHC5):c.1941C>T (p.His647=)
NM_014846.4(WASHC5):c.1956G>T (p.Val652=)
NM_014846.4(WASHC5):c.2016+10C>G rs1260941212
NM_014846.4(WASHC5):c.2016+20T>C
NM_014846.4(WASHC5):c.2017-16T>A
NM_014846.4(WASHC5):c.2017-20C>A rs759179193
NM_014846.4(WASHC5):c.2034T>C (p.His678=)
NM_014846.4(WASHC5):c.204A>G (p.Glu68=)
NM_014846.4(WASHC5):c.2052T>G (p.Thr684=) rs886062652
NM_014846.4(WASHC5):c.2190T>C (p.Pro730=) rs955321507
NM_014846.4(WASHC5):c.2200-18G>A
NM_014846.4(WASHC5):c.2238G>T (p.Ala746=) rs376307168
NM_014846.4(WASHC5):c.234G>A (p.Gln78=)
NM_014846.4(WASHC5):c.2430G>A (p.Lys810=) rs140742485
NM_014846.4(WASHC5):c.2532C>T (p.Asn844=) rs760598224
NM_014846.4(WASHC5):c.2562A>G (p.Glu854=)
NM_014846.4(WASHC5):c.2668-18G>A
NM_014846.4(WASHC5):c.2733C>T (p.Thr911=)
NM_014846.4(WASHC5):c.2771-17A>G
NM_014846.4(WASHC5):c.2836G>A (p.Glu946Lys)
NM_014846.4(WASHC5):c.2904T>G (p.Ser968=)
NM_014846.4(WASHC5):c.2928G>C (p.Leu976=)
NM_014846.4(WASHC5):c.2938C>T (p.Leu980=)
NM_014846.4(WASHC5):c.2949C>T (p.Leu983=)
NM_014846.4(WASHC5):c.2955-7C>T rs767591968
NM_014846.4(WASHC5):c.3084+18A>G
NM_014846.4(WASHC5):c.3085-8C>T
NM_014846.4(WASHC5):c.3144C>T (p.Ile1048=)
NM_014846.4(WASHC5):c.3165A>G (p.Gln1055=) rs777978845
NM_014846.4(WASHC5):c.332+11A>G rs755037747
NM_014846.4(WASHC5):c.333-20_333-19inv
NM_014846.4(WASHC5):c.3375C>T (p.Ala1125=) rs2129947881
NM_014846.4(WASHC5):c.3423+16T>A
NM_014846.4(WASHC5):c.3424-19_3424-15del
NM_014846.4(WASHC5):c.375C>G (p.Thr125=)
NM_014846.4(WASHC5):c.408A>G (p.Lys136=)
NM_014846.4(WASHC5):c.417+9T>G
NM_014846.4(WASHC5):c.420T>A (p.Cys140Ter) rs148562491
NM_014846.4(WASHC5):c.450A>G (p.Leu150=) rs778468473
NM_014846.4(WASHC5):c.498G>A (p.Leu166=) rs1586388281
NM_014846.4(WASHC5):c.666C>T (p.Ile222=) rs367837906
NM_014846.4(WASHC5):c.712-13C>G
NM_014846.4(WASHC5):c.712-15G>A
NM_014846.4(WASHC5):c.712-16C>T
NM_014846.4(WASHC5):c.712-7A>G
NM_014846.4(WASHC5):c.747A>T (p.Thr249=)
NM_014846.4(WASHC5):c.81T>C (p.Ala27=)
NM_014846.4(WASHC5):c.88T>C (p.Leu30=)
NM_014846.4(WASHC5):c.93A>G (p.Arg31=) rs2130220935
NM_014846.4(WASHC5):c.96C>G (p.Leu32=) rs1060504698
NM_014846.4(WASHC5):c.978+15G>A
NM_014846.4(WASHC5):c.978+20C>T
NM_014846.4(WASHC5):c.979-6G>A
NM_014846.4(WASHC5):c.990T>C (p.Tyr330=)

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