ClinVar Miner

List of variants reported as likely benign for Polycystic liver disease 1

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Total variants: 42
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HGVS dbSNP gnomAD frequency
NM_001289104.2(PRKCSH):c.351-5C>T rs76485217 0.00604
NM_001289104.2(PRKCSH):c.469-10G>A rs188022793 0.00354
NM_001289104.2(PRKCSH):c.-143G>A rs138496627 0.00273
NM_001289104.2(PRKCSH):c.416G>A (p.Arg139His) rs139991238 0.00137
NM_001289104.2(PRKCSH):c.807C>T (p.Tyr269=) rs201337319 0.00125
NM_001289104.2(PRKCSH):c.834C>T (p.Asp278=) rs139969239 0.00077
NM_001289104.2(PRKCSH):c.1092G>A (p.Pro364=) rs142347308 0.00066
NM_001289104.2(PRKCSH):c.1291G>A (p.Val431Ile) rs368655107 0.00054
NM_001289104.2(PRKCSH):c.438G>A (p.Glu146=) rs143369158 0.00053
NM_001289104.2(PRKCSH):c.862G>A (p.Asp288Asn) rs144616910 0.00026
NM_001289104.2(PRKCSH):c.763-41C>T rs369509968 0.00025
NM_001289104.2(PRKCSH):c.823G>A (p.Ala275Thr) rs142339453 0.00023
NM_001289104.2(PRKCSH):c.1392C>T (p.His464=) rs200928002 0.00013
NM_001289104.2(PRKCSH):c.752C>T (p.Ala251Val) rs138530475 0.00013
NM_001289104.2(PRKCSH):c.60C>T (p.Pro20=) rs138449875 0.00011
NM_001289104.2(PRKCSH):c.1476C>T (p.Cys492=) rs770480368 0.00008
NM_001289104.2(PRKCSH):c.1536G>A (p.Glu512=) rs374970694 0.00008
NM_001289104.2(PRKCSH):c.279C>T (p.Asn93=) rs777837737 0.00007
NM_001289104.2(PRKCSH):c.1590C>T (p.Asp530=) rs147203239 0.00006
NM_001289104.2(PRKCSH):c.683+9C>A rs367735502 0.00006
NM_007214.4(SEC63):c.-268C>A rs565916525 0.00005
NM_001289104.2(PRKCSH):c.678C>T (p.Asp226=) rs539988285 0.00004
NM_001289104.2(PRKCSH):c.850-12C>T rs201874863 0.00003
NM_001289104.2(PRKCSH):c.753G>A (p.Ala251=) rs756127892 0.00002
NM_001289104.2(PRKCSH):c.975G>A (p.Glu325=) rs775357974 0.00002
NM_001289104.2(PRKCSH):c.1005C>T (p.Ser335=) rs145740877 0.00001
NM_001289104.2(PRKCSH):c.324C>T (p.Ser108=) rs368596083 0.00001
NM_001289104.2(PRKCSH):c.37T>C (p.Trp13Arg) rs570440031 0.00001
NM_001289104.2(PRKCSH):c.847G>A (p.Glu283Lys) rs776575609 0.00001
NM_007214.4(SEC63):c.-264T>C rs565275212 0.00001
NM_001289104.2(PRKCSH):c.1338C>T (p.Leu446=) rs540593191
NM_001289104.2(PRKCSH):c.1569G>T (p.Pro523=) rs149505716
NM_001289104.2(PRKCSH):c.327C>T (p.Gly109=) rs766039060
NM_002743.2(PRKCSH):c.-299_-298CT[1] rs376159338
NM_007214.5(SEC63):c.*1936del rs535127807
NM_007214.5(SEC63):c.*2479dup rs200116970
NM_007214.5(SEC63):c.125-13del rs565329945
NM_007214.5(SEC63):c.1625_1626insTAC (p.Pro542_Gln543insThr) rs779139584
NM_007214.5(SEC63):c.1697AAG[2] (p.Glu568del) rs752018806
NM_007214.5(SEC63):c.1936-4_1936-3insTT rs773608064
NM_007214.5(SEC63):c.340-15_340-13del rs150022935
NM_007214.5(SEC63):c.340-6_340-5dup rs142388422

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