ClinVar Miner

List of variants in gene PRKCSH reported by CeGaT Center for Human Genetics Tuebingen

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Total variants: 18
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HGVS dbSNP gnomAD frequency
NM_001289104.2(PRKCSH):c.351-5C>T rs76485217 0.00604
NM_001289104.2(PRKCSH):c.1359T>C (p.Leu453=) rs139144555 0.00596
NM_001289104.2(PRKCSH):c.1378A>G (p.Ile460Val) rs34351170 0.00534
NM_001289104.2(PRKCSH):c.549T>C (p.Ala183=) rs62638749 0.00518
NM_001289104.2(PRKCSH):c.80-7C>G rs189520103 0.00147
NM_001289104.2(PRKCSH):c.416G>A (p.Arg139His) rs139991238 0.00137
NM_001289104.2(PRKCSH):c.834C>T (p.Asp278=) rs139969239 0.00074
NM_001289104.2(PRKCSH):c.751G>T (p.Ala251Ser) rs147043213 0.00035
NM_001289104.2(PRKCSH):c.1559C>T (p.Pro520Leu) rs139214550 0.00017
NM_001289104.2(PRKCSH):c.812G>A (p.Arg271His) rs150738221 0.00010
NM_001289104.2(PRKCSH):c.936A>G (p.Thr312=) rs1294882349 0.00008
NM_001289104.2(PRKCSH):c.1343G>A (p.Gly448Asp) rs201614230 0.00007
NM_001289104.2(PRKCSH):c.1489A>G (p.Met497Val) rs370262547 0.00003
NM_001289104.2(PRKCSH):c.1252C>T (p.Leu418=)
NM_001289104.2(PRKCSH):c.1356C>T (p.Ser452=)
NM_001289104.2(PRKCSH):c.374_375del (p.Glu125fs) rs779685748
NM_001289104.2(PRKCSH):c.821_832del (p.Ala274_Arg277del) rs1176604232
NM_001289104.2(PRKCSH):c.939GGA[7] (p.Glu323_Glu325del) rs3217229

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