ClinVar Miner

List of variants reported for Polycystic liver disease 1 by Fulgent Genetics, Fulgent Genetics

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Total variants: 36
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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.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.438G>A (p.Glu146=) rs143369158 0.00053
NM_001289104.2(PRKCSH):c.841C>T (p.Arg281Trp) rs746231889 0.00022
NM_001289104.2(PRKCSH):c.1283A>C (p.Asn428Thr) rs34318718 0.00013
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.-77-2A>C rs201157643 0.00010
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.762+2T>C rs112915100 0.00008
NM_001289104.2(PRKCSH):c.251C>T (p.Pro84Leu) rs370857637 0.00007
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.543G>C (p.Glu181Asp) rs370840119 0.00006
NM_001289104.2(PRKCSH):c.683+9C>A rs367735502 0.00006
NM_001289104.2(PRKCSH):c.627G>T (p.Gln209His) rs775259637 0.00004
NM_001289104.2(PRKCSH):c.678C>T (p.Asp226=) rs539988285 0.00004
NM_001289104.2(PRKCSH):c.683C>T (p.Thr228Met) rs149787198 0.00004
NM_001289104.2(PRKCSH):c.914C>T (p.Pro305Leu) rs201385707 0.00004
NM_001289104.2(PRKCSH):c.1099G>A (p.Asp367Asn) rs764376521 0.00002
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.1290C>G (p.Tyr430Ter) rs121918520
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.374_375del (p.Glu125fs) rs779685748
NM_001289104.2(PRKCSH):c.564_567del (p.Glu189fs) rs749223361
NM_001289104.2(PRKCSH):c.683+1G>A rs2144837651

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