ClinVar Miner

List of variants in gene HAND1 reported as likely benign for Hypoplastic left heart syndrome

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Gene type:
ClinVar version:
Total variants: 45
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HGVS dbSNP gnomAD frequency
NM_004821.3(HAND1):c.518G>T (p.Arg173Leu) rs146912397 0.00032
NM_004821.3(HAND1):c.252G>A (p.Arg84=) rs576744103 0.00010
NM_004821.3(HAND1):c.279C>T (p.Gly93=) rs201302137 0.00007
NM_004821.3(HAND1):c.76C>T (p.Pro26Ser) rs528298246 0.00007
NM_004821.3(HAND1):c.339A>G (p.Ala113=) rs150104384 0.00006
NM_004821.3(HAND1):c.447G>A (p.Val149=) rs765762725 0.00005
NM_004821.3(HAND1):c.219T>C (p.Gly73=) rs6880185 0.00004
NM_004821.3(HAND1):c.186G>T (p.Pro62=) rs748732968 0.00003
NM_004821.3(HAND1):c.88G>A (p.Gly30Ser) rs753450334 0.00003
NM_004821.3(HAND1):c.174G>C (p.Ala58=) rs761768832 0.00002
NM_004821.3(HAND1):c.579A>C (p.Pro193=) rs1037877952 0.00002
NM_004821.3(HAND1):c.183G>A (p.Pro61=) rs774965575 0.00001
NM_004821.3(HAND1):c.204C>T (p.Ala68=) rs746848071 0.00001
NM_004821.3(HAND1):c.237G>A (p.Gly79=) rs1415491664 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.480G>A (p.Glu160=) rs1201471420 0.00001
NM_004821.3(HAND1):c.543+19A>T rs1398783316 0.00001
NM_004821.3(HAND1):c.544-18C>G rs933165391 0.00001
NM_004821.3(HAND1):c.606C>T (p.Thr202=) rs1467632014 0.00001
NM_004821.3(HAND1):c.609C>G (p.Gly203=) rs773154099 0.00001
NM_004821.3(HAND1):c.647G>A (p.Ter216=) rs749591449 0.00001
NM_004821.3(HAND1):c.96C>T (p.Ala32=) rs755831294 0.00001
NM_004821.3(HAND1):c.147G>C (p.Pro49=)
NM_004821.3(HAND1):c.159C>G (p.Ala53=)
NM_004821.3(HAND1):c.159C>T (p.Ala53=)
NM_004821.3(HAND1):c.174G>A (p.Ala58=) rs761768832
NM_004821.3(HAND1):c.174G>T (p.Ala58=) rs761768832
NM_004821.3(HAND1):c.210C>A (p.Thr70=) rs1261595474
NM_004821.3(HAND1):c.225C>T (p.Asp75=) rs752995620
NM_004821.3(HAND1):c.261G>T (p.Ala87=) rs768347498
NM_004821.3(HAND1):c.280C>A (p.Arg94=) rs777670897
NM_004821.3(HAND1):c.339A>C (p.Ala113=) rs150104384
NM_004821.3(HAND1):c.36C>T (p.His12=)
NM_004821.3(HAND1):c.375G>A (p.Pro125=)
NM_004821.3(HAND1):c.420C>T (p.Thr140=) rs2532477134
NM_004821.3(HAND1):c.468T>C (p.Ser156=) rs34402828
NM_004821.3(HAND1):c.504G>A (p.Lys168=) rs2113303031
NM_004821.3(HAND1):c.516C>A (p.Gly172=) rs2532476775
NM_004821.3(HAND1):c.544-13T>G rs371697798
NM_004821.3(HAND1):c.564T>C (p.Pro188=) rs1561710559
NM_004821.3(HAND1):c.600A>C (p.Gly200=) rs942295767
NM_004821.3(HAND1):c.600A>G (p.Gly200=) rs942295767
NM_004821.3(HAND1):c.615G>C (p.Pro205=) rs368908340
NM_004821.3(HAND1):c.615G>T (p.Pro205=) rs368908340

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