List of variants in gene PRKCSH reported as pathogenic for Polycystic liver disease 1

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 10

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HGVS	dbSNP	gnomAD frequency
NM_001289104.2(PRKCSH):c.762+2T>C	rs112915100	0.00008
NM_001289104.2(PRKCSH):c.1191dup (p.Ile398fs)	rs1970419486
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_001289104.2(PRKCSH):c.374_375del (p.Glu125fs)	rs779685748

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