List of variants reported as uncertain significance for Hypoplastic left heart syndrome by Labcorp Genetics (formerly Invitae), Labcorp

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 90

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HGVS	dbSNP	gnomAD frequency
NM_004821.3(HAND1):c.566C>T (p.Pro189Leu)	rs147677474	0.00026
NM_004821.3(HAND1):c.202G>C (p.Ala68Pro)	rs374965548	0.00010
NM_004821.3(HAND1):c.454A>G (p.Lys152Glu)	rs762375465	0.00010
NM_004821.3(HAND1):c.146C>G (p.Pro49Arg)	rs748866943	0.00007
NM_004821.3(HAND1):c.122A>G (p.Tyr41Cys)	rs564241048	0.00004
NM_004821.3(HAND1):c.173C>A (p.Ala58Glu)	rs201496181	0.00003
NM_004821.3(HAND1):c.128A>G (p.Gln43Arg)	rs768965463	0.00002
NM_004821.3(HAND1):c.110A>G (p.Gln37Arg)	rs533319519	0.00001
NM_004821.3(HAND1):c.111G>C (p.Gln37His)	rs759535790	0.00001
NM_004821.3(HAND1):c.126C>A (p.Phe42Leu)	rs776751181	0.00001
NM_004821.3(HAND1):c.135G>T (p.Trp45Cys)	rs772706064	0.00001
NM_004821.3(HAND1):c.161C>T (p.Pro54Leu)	rs780969396	0.00001
NM_004821.3(HAND1):c.1A>G (p.Met1Val)	rs763806635	0.00001
NM_004821.3(HAND1):c.215A>G (p.Tyr72Cys)	rs764242373	0.00001
NM_004821.3(HAND1):c.235G>C (p.Gly79Arg)	rs1176090594	0.00001
NM_004821.3(HAND1):c.245C>T (p.Pro82Leu)	rs772538065	0.00001
NM_004821.3(HAND1):c.257A>T (p.Glu86Val)	rs1177737621	0.00001
NM_004821.3(HAND1):c.308A>G (p.Glu103Gly)	rs1182283102	0.00001
NM_004821.3(HAND1):c.370G>T (p.Val124Leu)	rs745686103	0.00001
NM_004821.3(HAND1):c.37C>T (p.His13Tyr)	rs769999347	0.00001
NM_004821.3(HAND1):c.422G>A (p.Ser141Asn)	rs1303293556	0.00001
NM_004821.3(HAND1):c.479A>G (p.Glu160Gly)	rs987403652	0.00001
NM_004821.3(HAND1):c.500A>G (p.Lys167Arg)	rs202139442	0.00001
NM_004821.3(HAND1):c.512G>A (p.Gly171Asp)	rs201984942	0.00001
NM_004821.3(HAND1):c.551A>T (p.His184Leu)	rs1246794989	0.00001
NM_004821.3(HAND1):c.562C>G (p.Pro188Ala)	rs929460819	0.00001
NM_004821.3(HAND1):c.565C>T (p.Pro189Ser)	rs1389554299	0.00001
NM_004821.3(HAND1):c.7C>G (p.Leu3Val)	rs1299508908	0.00001
NC_000005.9:g.(?_153855366)_(153857568_?)del
NC_000005.9:g.(?_153855366)_(153857568_?)dup
NM_004821.3(HAND1):c.10G>A (p.Val4Met)	rs767528053
NM_004821.3(HAND1):c.112G>A (p.Glu38Lys)	rs1757574571
NM_004821.3(HAND1):c.117G>C (p.Arg39Ser)	rs2113303993
NM_004821.3(HAND1):c.118C>A (p.Pro40Thr)	rs1757574498
NM_004821.3(HAND1):c.132C>G (p.Ser44Arg)	rs145232171
NM_004821.3(HAND1):c.152A>T (p.Asp51Val)	rs1365842411
NM_004821.3(HAND1):c.154G>A (p.Ala52Thr)
NM_004821.3(HAND1):c.158C>T (p.Ala53Val)	rs1251644234
NM_004821.3(HAND1):c.161C>G (p.Pro54Arg)	rs780969396
NM_004821.3(HAND1):c.168C>G (p.Phe56Leu)	rs1202928556
NM_004821.3(HAND1):c.173C>T (p.Ala58Val)	rs201496181
NM_004821.3(HAND1):c.178G>C (p.Gly60Arg)
NM_004821.3(HAND1):c.182C>A (p.Pro61Gln)	rs760076464
NM_004821.3(HAND1):c.187C>T (p.Pro63Ser)	rs772843786
NM_004821.3(HAND1):c.196G>A (p.Ala66Thr)	rs1190602578
NM_004821.3(HAND1):c.22G>T (p.Ala8Ser)
NM_004821.3(HAND1):c.231G>T (p.Arg77Ser)	rs1373952727
NM_004821.3(HAND1):c.250C>G (p.Arg84Gly)	rs1167066563
NM_004821.3(HAND1):c.271C>A (p.Arg91Ser)	rs369296058
NM_004821.3(HAND1):c.271C>G (p.Arg91Gly)	rs369296058
NM_004821.3(HAND1):c.289G>T (p.Gly97Cys)	rs878854746
NM_004821.3(HAND1):c.29ATCACCACC[1] (p.His13_His15del)	rs754696027
NM_004821.3(HAND1):c.319A>C (p.Thr107Pro)
NM_004821.3(HAND1):c.355G>C (p.Glu119Gln)	rs1400422414
NM_004821.3(HAND1):c.364C>T (p.Pro122Ser)	rs1481488405
NM_004821.3(HAND1):c.36C>A (p.His12Gln)	rs1347266849
NM_004821.3(HAND1):c.370G>A (p.Val124Met)	rs745686103
NM_004821.3(HAND1):c.374C>G (p.Pro125Arg)	rs1405443403
NM_004821.3(HAND1):c.374C>T (p.Pro125Leu)	rs1405443403
NM_004821.3(HAND1):c.379G>T (p.Asp127Tyr)	rs1440191810
NM_004821.3(HAND1):c.400A>T (p.Lys134Ter)	rs974646425
NM_004821.3(HAND1):c.402G>T (p.Lys134Asn)
NM_004821.3(HAND1):c.410G>T (p.Arg137Leu)
NM_004821.3(HAND1):c.444C>A (p.Asp148Glu)
NM_004821.3(HAND1):c.445G>T (p.Val149Leu)
NM_004821.3(HAND1):c.44A>C (p.His15Pro)
NM_004821.3(HAND1):c.455A>C (p.Lys152Thr)	rs2532476987
NM_004821.3(HAND1):c.473A>T (p.Asp158Val)	rs2532476882
NM_004821.3(HAND1):c.496C>T (p.Leu166Phe)	rs2113303062
NM_004821.3(HAND1):c.4A>G (p.Asn2Asp)
NM_004821.3(HAND1):c.51C>G (p.His17Gln)	rs1757575870
NM_004821.3(HAND1):c.535A>T (p.Arg179Trp)	rs2532476717
NM_004821.3(HAND1):c.55_63dup (p.Pro21_Met22insAlaHisPro)	rs2532478528
NM_004821.3(HAND1):c.574G>A (p.Gly192Ser)	rs2113300916
NM_004821.3(HAND1):c.587A>G (p.Lys196Arg)	rs878854747
NM_004821.3(HAND1):c.599G>A (p.Gly200Glu)
NM_004821.3(HAND1):c.604A>G (p.Thr202Ala)	rs2113300864
NM_004821.3(HAND1):c.608G>C (p.Gly203Ala)	rs762786810
NM_004821.3(HAND1):c.613C>A (p.Pro205Thr)
NM_004821.3(HAND1):c.628G>C (p.Ala210Pro)
NM_004821.3(HAND1):c.629C>T (p.Ala210Val)
NM_004821.3(HAND1):c.62C>T (p.Pro21Leu)	rs780396101
NM_004821.3(HAND1):c.640A>C (p.Asn214His)	rs2532473651
NM_004821.3(HAND1):c.66_73dup (p.Glu25fs)	rs1193545616
NM_004821.3(HAND1):c.67C>T (p.Leu23Phe)	rs1389429025
NM_004821.3(HAND1):c.6C>A (p.Asn2Lys)	rs760607439
NM_004821.3(HAND1):c.72C>G (p.His24Gln)	rs2532478477
NM_004821.3(HAND1):c.7C>A (p.Leu3Ile)
NM_004821.3(HAND1):c.7C>T (p.Leu3Phe)
NM_004821.3(HAND1):c.98C>T (p.Ser33Leu)

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