ClinVar Miner

List of variants in gene PRKCSH studied for abdominal and pelvic region disorder

Included ClinVar conditions (902):
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Gene type:
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Total variants: 51
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HGVS dbSNP
NM_002743.3(PRKCSH):c.*150C>T rs886054200
NM_002743.3(PRKCSH):c.*181G>A rs1803607
NM_002743.3(PRKCSH):c.*185T>C rs8616
NM_002743.3(PRKCSH):c.-77-2A>C rs201157643
NM_002743.3(PRKCSH):c.1071G>A (p.Pro357=) rs142347308
NM_002743.3(PRKCSH):c.1176-14G>A rs141301073
NM_002743.3(PRKCSH):c.1183G>A (p.Glu395Lys) rs886054199
NM_002743.3(PRKCSH):c.1239C>T (p.Ser413=) rs201787445
NM_002743.3(PRKCSH):c.1240C>T (p.Gln414Ter) rs121918519
NM_002743.3(PRKCSH):c.1265+14A>G rs150798392
NM_002743.3(PRKCSH):c.1269C>G (p.Tyr423Ter) rs121918520
NM_002743.3(PRKCSH):c.1271T>C (p.Val424Ala) rs143784110
NM_002743.3(PRKCSH):c.1338T>C (p.Leu446=) rs139144555
NM_002743.3(PRKCSH):c.1341-2A>G rs1555728968
NM_002743.3(PRKCSH):c.1357A>G (p.Ile453Val) rs34351170
NM_002743.3(PRKCSH):c.1363C>T (p.Pro455Ser) rs866469235
NM_002743.3(PRKCSH):c.1371C>T (p.His457=) rs200928002
NM_002743.3(PRKCSH):c.1395T>G (p.Tyr465Ter) rs1555728990
NM_002743.3(PRKCSH):c.1440+2_1440+3del rs757957327
NM_002743.3(PRKCSH):c.1515G>A (p.Glu505=) rs374970694
NM_002743.3(PRKCSH):c.1569C>T (p.Asp523=) rs147203239
NM_002743.3(PRKCSH):c.16+6C>T rs143718876
NM_002743.3(PRKCSH):c.215dup (p.Asn72fs) rs1555725707
NM_002743.3(PRKCSH):c.292+1G>C rs774233325
NM_002743.3(PRKCSH):c.327C>T (p.Gly109=) rs766039060
NM_002743.3(PRKCSH):c.350+10T>C rs188406927
NM_002743.3(PRKCSH):c.351-5C>T rs76485217
NM_002743.3(PRKCSH):c.393C>T (p.Ala131=) rs780423740
NM_002743.3(PRKCSH):c.404G>T (p.Arg135Leu) rs886054197
NM_002743.3(PRKCSH):c.416G>A (p.Arg139His) rs139991238
NM_002743.3(PRKCSH):c.454C>T (p.Arg152Trp) rs151207349
NM_002743.3(PRKCSH):c.469-10G>A rs188022793
NM_002743.3(PRKCSH):c.549T>C (p.Ala183=) rs62638749
NM_002743.3(PRKCSH):c.628G>A (p.Glu210Lys) rs200168017
NM_002743.3(PRKCSH):c.690G>A (p.Ser230=) rs373431632
NM_002743.3(PRKCSH):c.702G>A (p.Leu234=) rs886054198
NM_002743.3(PRKCSH):c.751G>T (p.Ala251Ser) rs147043213
NM_002743.3(PRKCSH):c.752C>T (p.Ala251Val) rs138530475
NM_002743.3(PRKCSH):c.753G>A (p.Ala251=) rs756127892
NM_002743.3(PRKCSH):c.79+10_79+12delCCT rs143936796
NM_002743.3(PRKCSH):c.807C>T (p.Tyr269=) rs201337319
NM_002743.3(PRKCSH):c.823G>A (p.Ala275Thr) rs142339453
NM_002743.3(PRKCSH):c.82C>T (p.His28Tyr) rs149258999
NM_002743.3(PRKCSH):c.834C>T (p.Asp278=) rs139969239
NM_002743.3(PRKCSH):c.850-12C>T rs201874863
NM_002743.3(PRKCSH):c.850-14T>C rs186375
NM_002743.3(PRKCSH):c.871G>A (p.Ala291Thr) rs11557488
NM_002743.3(PRKCSH):c.914C>T (p.Pro305Leu) rs201385707
NM_002743.3(PRKCSH):c.930G>A (p.Ser310=) rs147897290
NM_002743.3(PRKCSH):c.939_941GGA[9] (p.Glu325del) rs3217229
NM_002743.3(PRKCSH):c.976G>A (p.Ala326Thr) rs140014863

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