List of variants reported as pathogenic for autosomal dominant polycystic liver disease by OMIM

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Total variants: 17

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HGVS	dbSNP	gnomAD frequency
NM_024079.5(ALG8):c.1038+1G>T	rs202112771	0.00016
NM_024079.5(ALG8):c.1090C>T (p.Arg364Ter)	rs376161880	0.00010
NM_024079.5(ALG8):c.535C>T (p.Arg179Ter)	rs762811727	0.00003
NM_007214.5(SEC63):c.173G>A (p.Trp58Ter)	rs119103233	0.00001
NM_001289104.2(PRKCSH):c.1261C>T (p.Gln421Ter)	rs121918519
NM_001289104.2(PRKCSH):c.1290C>G (p.Tyr430Ter)	rs121918520
NM_001289104.2(PRKCSH):c.1362-2A>G	rs1555728968
NM_001289104.2(PRKCSH):c.1416T>G (p.Tyr472Ter)	rs1555728990
NM_001289104.2(PRKCSH):c.1461+2_1461+3del	rs757957327
NM_001289104.2(PRKCSH):c.215dup (p.Asn72fs)	rs1555725707
NM_001289104.2(PRKCSH):c.292+1G>C	rs774233325
NM_002335.4(LRP5):c.1360G>A (p.Val454Met)	rs373910016
NM_002335.4(LRP5):c.3562C>T (p.Arg1188Trp)	rs141178995
NM_002335.4(LRP5):c.4587G>C (p.Arg1529Ser)	rs724159826
NM_007214.5(SEC63):c.1697AAG[2] (p.Glu568del)	rs752018806
NM_007214.5(SEC63):c.442_443insA (p.Ala148fs)	rs886041027
NM_007214.5(SEC63):c.733+1G>A	rs886041028

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