ClinVar Miner

List of variants in gene HAND1 reported as uncertain significance for congenital left-sided heart lesions

Included ClinVar conditions (8):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 73
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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.122A>G (p.Tyr41Cys) rs564241048 0.00004
NM_004821.3(HAND1):c.128A>G (p.Gln43Arg) rs768965463 0.00002
NM_004821.3(HAND1):c.135G>T (p.Trp45Cys) rs772706064 0.00001
NM_004821.3(HAND1):c.152A>T (p.Asp51Val) rs1365842411 0.00001
NM_004821.3(HAND1):c.187C>T (p.Pro63Ser) rs772843786 0.00001
NM_004821.3(HAND1):c.215A>G (p.Tyr72Cys) rs764242373 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.370G>T (p.Val124Leu) rs745686103 0.00001
NM_004821.3(HAND1):c.551A>T (p.His184Leu) rs1246794989 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)
NM_004821.3(HAND1):c.110A>G (p.Gln37Arg)
NM_004821.3(HAND1):c.111G>C (p.Gln37His)
NM_004821.3(HAND1):c.112G>A (p.Glu38Lys)
NM_004821.3(HAND1):c.117G>C (p.Arg39Ser) rs2113303993
NM_004821.3(HAND1):c.118C>A (p.Pro40Thr)
NM_004821.3(HAND1):c.126C>A (p.Phe42Leu)
NM_004821.3(HAND1):c.132C>G (p.Ser44Arg)
NM_004821.3(HAND1):c.146C>G (p.Pro49Arg)
NM_004821.3(HAND1):c.158C>T (p.Ala53Val)
NM_004821.3(HAND1):c.161C>G (p.Pro54Arg) rs780969396
NM_004821.3(HAND1):c.161C>T (p.Pro54Leu)
NM_004821.3(HAND1):c.168C>G (p.Phe56Leu)
NM_004821.3(HAND1):c.173C>A (p.Ala58Glu)
NM_004821.3(HAND1):c.173C>T (p.Ala58Val)
NM_004821.3(HAND1):c.182C>A (p.Pro61Gln)
NM_004821.3(HAND1):c.196G>A (p.Ala66Thr)
NM_004821.3(HAND1):c.1A>G (p.Met1Val)
NM_004821.3(HAND1):c.231G>T (p.Arg77Ser)
NM_004821.3(HAND1):c.235G>C (p.Gly79Arg)
NM_004821.3(HAND1):c.250C>G (p.Arg84Gly)
NM_004821.3(HAND1):c.271C>A (p.Arg91Ser) rs369296058
NM_004821.3(HAND1):c.271C>G (p.Arg91Gly)
NM_004821.3(HAND1):c.289G>T (p.Gly97Cys) rs878854746
NM_004821.3(HAND1):c.29ATCACCACC[1] (p.His13_His15del)
NM_004821.3(HAND1):c.308A>G (p.Glu103Gly)
NM_004821.3(HAND1):c.355G>C (p.Glu119Gln)
NM_004821.3(HAND1):c.364C>T (p.Pro122Ser)
NM_004821.3(HAND1):c.36C>A (p.His12Gln)
NM_004821.3(HAND1):c.370G>A (p.Val124Met)
NM_004821.3(HAND1):c.374C>G (p.Pro125Arg)
NM_004821.3(HAND1):c.374C>T (p.Pro125Leu)
NM_004821.3(HAND1):c.379G>T (p.Asp127Tyr)
NM_004821.3(HAND1):c.37C>T (p.His13Tyr)
NM_004821.3(HAND1):c.400A>T (p.Lys134Ter) rs974646425
NM_004821.3(HAND1):c.422G>A (p.Ser141Asn)
NM_004821.3(HAND1):c.455A>C (p.Lys152Thr)
NM_004821.3(HAND1):c.473A>T (p.Asp158Val)
NM_004821.3(HAND1):c.479A>G (p.Glu160Gly)
NM_004821.3(HAND1):c.496C>T (p.Leu166Phe) rs2113303062
NM_004821.3(HAND1):c.500A>G (p.Lys167Arg)
NM_004821.3(HAND1):c.512G>A (p.Gly171Asp)
NM_004821.3(HAND1):c.51C>G (p.His17Gln)
NM_004821.3(HAND1):c.535A>T (p.Arg179Trp)
NM_004821.3(HAND1):c.55_63dup (p.Pro21_Met22insAlaHisPro)
NM_004821.3(HAND1):c.565C>T (p.Pro189Ser)
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.604A>G (p.Thr202Ala) rs2113300864
NM_004821.3(HAND1):c.608G>C (p.Gly203Ala)
NM_004821.3(HAND1):c.62C>T (p.Pro21Leu) rs780396101
NM_004821.3(HAND1):c.640A>C (p.Asn214His)
NM_004821.3(HAND1):c.647G>A (p.Ter216=)
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)
NM_004821.3(HAND1):c.72C>G (p.His24Gln)
NM_004821.3(HAND1):c.7C>G (p.Leu3Val)

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