ClinVar Miner

List of variants studied for congenital left-sided heart lesions by Invitae

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 17
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HGVS dbSNP
NM_004821.3(HAND1):c.122A>G (p.Tyr41Cys)
NM_004821.3(HAND1):c.162G>A (p.Pro54=) rs138460675
NM_004821.3(HAND1):c.174G>C (p.Ala58=) rs761768832
NM_004821.3(HAND1):c.180G>A (p.Gly60=) rs369386099
NM_004821.3(HAND1):c.187C>T (p.Pro63Ser) rs772843786
NM_004821.3(HAND1):c.215A>G (p.Tyr72Cys)
NM_004821.3(HAND1):c.247G>T (p.Gly83Trp) rs201302313
NM_004821.3(HAND1):c.252G>A (p.Arg84=)
NM_004821.3(HAND1):c.257A>T (p.Glu86Val) rs1177737621
NM_004821.3(HAND1):c.279C>T (p.Gly93=)
NM_004821.3(HAND1):c.289G>T (p.Gly97Cys) rs878854746
NM_004821.3(HAND1):c.370G>T (p.Val124Leu)
NM_004821.3(HAND1):c.468T>C (p.Ser156=)
NM_004821.3(HAND1):c.468T>G (p.Ser156=) rs34402828
NM_004821.3(HAND1):c.531G>C (p.Arg177=) rs34198899
NM_004821.3(HAND1):c.551A>T (p.His184Leu)
NM_004821.3(HAND1):c.587A>G (p.Lys196Arg) rs878854747

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