ClinVar Miner

List of variants in gene HAND1 studied for congenital anomaly of cardiovascular system

Included ClinVar conditions (334):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 118
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HGVS dbSNP gnomAD frequency
NM_004821.3(HAND1):c.468T>G (p.Ser156=) rs34402828 0.04584
NM_004821.3(HAND1):c.531G>C (p.Arg177=) rs34198899 0.04411
NM_004821.3(HAND1):c.162G>A (p.Pro54=) rs138460675 0.00236
NM_004821.3(HAND1):c.247G>T (p.Gly83Trp) rs201302313 0.00175
NM_004821.3(HAND1):c.180G>A (p.Gly60=) rs369386099 0.00070
NM_004821.3(HAND1):c.518G>T (p.Arg173Leu) rs146912397 0.00035
NM_004821.3(HAND1):c.46C>A (p.Pro16Thr) rs200556971 0.00026
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.252G>A (p.Arg84=) rs576744103 0.00010
NM_004821.3(HAND1):c.454A>G (p.Lys152Glu) rs762375465 0.00010
NM_004821.3(HAND1):c.279C>T (p.Gly93=) rs201302137 0.00007
NM_004821.3(HAND1):c.339A>G (p.Ala113=) rs150104384 0.00006
NM_004821.3(HAND1):c.122A>G (p.Tyr41Cys) rs564241048 0.00004
NM_004821.3(HAND1):c.219T>C (p.Gly73=) rs6880185 0.00004
NM_004821.3(HAND1):c.128A>G (p.Gln43Arg) rs768965463 0.00002
NM_004821.3(HAND1):c.174G>C (p.Ala58=) rs761768832 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.183G>A (p.Pro61=) rs774965575 0.00001
NM_004821.3(HAND1):c.187C>T (p.Pro63Ser) rs772843786 0.00001
NM_004821.3(HAND1):c.204C>T (p.Ala68=) rs746848071 0.00001
NM_004821.3(HAND1):c.215A>G (p.Tyr72Cys) rs764242373 0.00001
NM_004821.3(HAND1):c.237G>A (p.Gly79=) rs1415491664 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.345G>T (p.Ala115=) rs1043638166 0.00001
NM_004821.3(HAND1):c.357G>C (p.Glu119Asp) rs775093878 0.00001
NM_004821.3(HAND1):c.370G>T (p.Val124Leu) rs745686103 0.00001
NM_004821.3(HAND1):c.544-18C>G rs933165391 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.174G>A (p.Ala58=) rs761768832
NM_004821.3(HAND1):c.174G>T (p.Ala58=)
NM_004821.3(HAND1):c.182C>A (p.Pro61Gln)
NM_004821.3(HAND1):c.186G>T (p.Pro62=)
NM_004821.3(HAND1):c.196G>A (p.Ala66Thr)
NM_004821.3(HAND1):c.1A>G (p.Met1Val)
NM_004821.3(HAND1):c.210C>A (p.Thr70=)
NM_004821.3(HAND1):c.225C>T (p.Asp75=) rs752995620
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.261G>T (p.Ala87=) rs768347498
NM_004821.3(HAND1):c.271C>A (p.Arg91Ser) rs369296058
NM_004821.3(HAND1):c.271C>G (p.Arg91Gly)
NM_004821.3(HAND1):c.280C>A (p.Arg94=)
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.339A>C (p.Ala113=)
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.420C>T (p.Thr140=)
NM_004821.3(HAND1):c.422G>A (p.Ser141Asn)
NM_004821.3(HAND1):c.447G>A (p.Val149=)
NM_004821.3(HAND1):c.455A>C (p.Lys152Thr)
NM_004821.3(HAND1):c.468T>C (p.Ser156=) rs34402828
NM_004821.3(HAND1):c.473A>T (p.Asp158Val)
NM_004821.3(HAND1):c.479A>G (p.Glu160Gly)
NM_004821.3(HAND1):c.480G>A (p.Glu160=)
NM_004821.3(HAND1):c.496C>T (p.Leu166Phe) rs2113303062
NM_004821.3(HAND1):c.500A>G (p.Lys167Arg)
NM_004821.3(HAND1):c.504G>A (p.Lys168=) rs2113303031
NM_004821.3(HAND1):c.512G>A (p.Gly171Asp)
NM_004821.3(HAND1):c.516C>A (p.Gly172=)
NM_004821.3(HAND1):c.51C>G (p.His17Gln)
NM_004821.3(HAND1):c.535A>T (p.Arg179Trp)
NM_004821.3(HAND1):c.543+19A>T
NM_004821.3(HAND1):c.544-13T>G
NM_004821.3(HAND1):c.55_63dup (p.Pro21_Met22insAlaHisPro)
NM_004821.3(HAND1):c.564T>C (p.Pro188=) rs1561710559
NM_004821.3(HAND1):c.565C>T (p.Pro189Ser)
NM_004821.3(HAND1):c.574G>A (p.Gly192Ser) rs2113300916
NM_004821.3(HAND1):c.579A>C (p.Pro193=)
NM_004821.3(HAND1):c.587A>G (p.Lys196Arg) rs878854747
NM_004821.3(HAND1):c.600A>C (p.Gly200=) rs942295767
NM_004821.3(HAND1):c.600A>G (p.Gly200=)
NM_004821.3(HAND1):c.604A>G (p.Thr202Ala) rs2113300864
NM_004821.3(HAND1):c.606C>T (p.Thr202=)
NM_004821.3(HAND1):c.608G>C (p.Gly203Ala)
NM_004821.3(HAND1):c.609C>G (p.Gly203=)
NM_004821.3(HAND1):c.615G>C (p.Pro205=)
NM_004821.3(HAND1):c.615G>T (p.Pro205=)
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.76C>T (p.Pro26Ser)
NM_004821.3(HAND1):c.7C>G (p.Leu3Val)
NM_004821.3(HAND1):c.88G>A (p.Gly30Ser)
NM_004821.3(HAND1):c.96C>T (p.Ala32=)

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