ClinVar Miner

List of variants in gene PRKCSH reported as uncertain significance 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: 16
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HGVS dbSNP
NM_002743.3(PRKCSH):c.*150C>T rs886054200
NM_002743.3(PRKCSH):c.-77-2A>C rs201157643
NM_002743.3(PRKCSH):c.1183G>A (p.Glu395Lys) rs886054199
NM_002743.3(PRKCSH):c.1363C>T (p.Pro455Ser) rs866469235
NM_002743.3(PRKCSH):c.1515G>A (p.Glu505=) rs374970694
NM_002743.3(PRKCSH):c.327C>T (p.Gly109=) rs766039060
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.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.850-12C>T rs201874863
NM_002743.3(PRKCSH):c.914C>T (p.Pro305Leu) rs201385707
NM_002743.3(PRKCSH):c.930G>A (p.Ser310=) rs147897290

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