ClinVar Miner

List of variants in gene SHH reported as uncertain significance for congenital nervous system disorder

Included ClinVar conditions (840):
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Gene type:
ClinVar version:
Total variants: 73
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HGVS dbSNP gnomAD frequency
NM_000193.4(SHH):c.1178C>G (p.Ala393Gly) rs751239867 0.00023
NM_000193.4(SHH):c.1279G>A (p.Gly427Arg) rs763665589 0.00004
NM_000193.4(SHH):c.236A>G (p.Asn79Ser) rs754993269 0.00004
NM_000193.4(SHH):c.44C>G (p.Ser15Trp) rs760920236 0.00002
NM_000193.4(SHH):c.1147G>A (p.Ala383Thr) rs137853341 0.00001
NM_000193.4(SHH):c.1196G>A (p.Gly399Glu) rs1370608867 0.00001
NM_000193.4(SHH):c.1210G>A (p.Gly404Arg) rs1803237255 0.00001
NM_000193.4(SHH):c.1331C>T (p.Thr444Ile) rs1301593958 0.00001
NM_000193.4(SHH):c.479T>C (p.Met160Thr) rs747511798 0.00001
NM_000193.4(SHH):c.605C>T (p.Ser202Leu) rs1473100698 0.00001
NM_000193.4(SHH):c.741C>T (p.Gly247=) rs754898783 0.00001
NM_000193.4(SHH):c.766G>C (p.Glu256Gln) rs104894051 0.00001
NM_000193.4(SHH):c.961C>A (p.Arg321Ser) rs1803249091 0.00001
NM_000193.4(SHH):c.1012A>T (p.Ser338Cys)
NM_000193.4(SHH):c.1013G>T (p.Ser338Ile)
NM_000193.4(SHH):c.1025C>T (p.Ala342Val)
NM_000193.4(SHH):c.1028G>A (p.Gly343Asp) rs1057518056
NM_000193.4(SHH):c.1048G>T (p.Ala350Ser) rs768025752
NM_000193.4(SHH):c.1094C>T (p.Ala365Val)
NM_000193.4(SHH):c.1120C>T (p.His374Tyr) rs2117126217
NM_000193.4(SHH):c.1157_1180del (p.Leu386_Ala393del)
NM_000193.4(SHH):c.1171G>A (p.Ala391Thr) rs1131692264
NM_000193.4(SHH):c.1189_1200dup (p.Arg397_Asp400dup) rs1379532101
NM_000193.4(SHH):c.1199A>T (p.Asp400Val) rs1395203013
NM_000193.4(SHH):c.1201_1215dup (p.Asp405_Arg406insSerGlyGlyGlyAsp)
NM_000193.4(SHH):c.1210_1233del (p.Gly404_Gly411del) rs780129844
NM_000193.4(SHH):c.1211G>A (p.Gly404Glu)
NM_000193.4(SHH):c.1217G>A (p.Arg406His)
NM_000193.4(SHH):c.121C>G (p.Pro41Ala) rs1803533139
NM_000193.4(SHH):c.1271C>T (p.Pro424Leu)
NM_000193.4(SHH):c.1296C>G (p.Ile432Met) rs1803230762
NM_000193.4(SHH):c.12_29dup (p.Ala5_Leu10dup) rs2117151449
NM_000193.4(SHH):c.1322A>G (p.Gln441Arg)
NM_000193.4(SHH):c.1334G>A (p.Trp445Ter)
NM_000193.4(SHH):c.1351G>A (p.Ala451Thr)
NM_000193.4(SHH):c.137A>T (p.Gln46Leu) rs2117151273
NM_000193.4(SHH):c.13G>C (p.Ala5Pro)
NM_000193.4(SHH):c.177C>A (p.Ser59Arg)
NM_000193.4(SHH):c.205A>C (p.Asn69His) rs2117151176
NM_000193.4(SHH):c.211G>C (p.Glu71Gln)
NM_000193.4(SHH):c.23T>C (p.Leu8Pro)
NM_000193.4(SHH):c.281C>G (p.Ala94Gly) rs1803529327
NM_000193.4(SHH):c.332T>C (p.Ile111Thr) rs2117138105
NM_000193.4(SHH):c.335C>G (p.Ser112Trp) rs2117138098
NM_000193.4(SHH):c.420C>G (p.His140Gln) rs2117137771
NM_000193.4(SHH):c.424G>A (p.Glu142Lys)
NM_000193.4(SHH):c.434C>T (p.Ala145Val)
NM_000193.4(SHH):c.468C>A (p.Ser156Arg) rs1554494372
NM_000193.4(SHH):c.488G>A (p.Arg163His)
NM_000193.4(SHH):c.488G>T (p.Arg163Leu)
NM_000193.4(SHH):c.494C>A (p.Ala165Glu)
NM_000193.4(SHH):c.52G>T (p.Val18Leu)
NM_000193.4(SHH):c.532A>C (p.Lys178Gln) rs757178896
NM_000193.4(SHH):c.580A>C (p.Lys194Gln)
NM_000193.4(SHH):c.607G>T (p.Ala203Ser)
NM_000193.4(SHH):c.629G>A (p.Gly210Asp) rs1554493882
NM_000193.4(SHH):c.629G>T (p.Gly210Val) rs1554493882
NM_000193.4(SHH):c.643_645del (p.Val215del) rs1554493872
NM_000193.4(SHH):c.694C>G (p.Arg232Gly)
NM_000193.4(SHH):c.716T>C (p.Leu239Pro)
NM_000193.4(SHH):c.719C>G (p.Thr240Ser)
NM_000193.4(SHH):c.770C>T (p.Thr257Met)
NM_000193.4(SHH):c.775G>A (p.Glu259Lys) rs1201542449
NM_000193.4(SHH):c.824C>A (p.Ala275Glu)
NM_000193.4(SHH):c.847G>T (p.Gly283Trp)
NM_000193.4(SHH):c.853C>G (p.Pro285Ala) rs747668656
NM_000193.4(SHH):c.858G>C (p.Glu286Asp)
NM_000193.4(SHH):c.905G>A (p.Arg302Gln)
NM_000193.4(SHH):c.908C>T (p.Ala303Val)
NM_000193.4(SHH):c.916G>A (p.Ala306Thr) rs537257011
NM_000193.4(SHH):c.923G>C (p.Arg308Pro)
NM_000193.4(SHH):c.952G>A (p.Val318Met)
NM_000193.4(SHH):c.998A>C (p.His333Pro) rs1303961828

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