ClinVar Miner

List of variants in gene PRKCSH reported as likely benign for abdominal and pelvic region disorder

Included ClinVar conditions (902):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 23
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HGVS dbSNP
NM_002743.3(PRKCSH):c.*181G>A rs1803607
NM_002743.3(PRKCSH):c.1071G>A (p.Pro357=) rs142347308
NM_002743.3(PRKCSH):c.1176-14G>A rs141301073
NM_002743.3(PRKCSH):c.1239C>T (p.Ser413=) rs201787445
NM_002743.3(PRKCSH):c.1265+14A>G rs150798392
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.1357A>G (p.Ile453Val) rs34351170
NM_002743.3(PRKCSH):c.1371C>T (p.His457=) rs200928002
NM_002743.3(PRKCSH):c.1569C>T (p.Asp523=) rs147203239
NM_002743.3(PRKCSH):c.16+6C>T rs143718876
NM_002743.3(PRKCSH):c.350+10T>C rs188406927
NM_002743.3(PRKCSH):c.351-5C>T rs76485217
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.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.976G>A (p.Ala326Thr) rs140014863

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