ClinVar Miner

List of variants studied for Hypoplastic left heart syndrome by Invitae

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Total variants: 50
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HGVS dbSNP gnomAD frequency
NM_004821.3(HAND1):c.531G>C (p.Arg177=) rs34198899 0.04876
NM_004821.3(HAND1):c.468T>G (p.Ser156=) rs34402828 0.04584
NM_004821.3(HAND1):c.247G>T (p.Gly83Trp) rs201302313 0.00346
NM_004821.3(HAND1):c.162G>A (p.Pro54=) rs138460675 0.00236
NM_004821.3(HAND1):c.180G>A (p.Gly60=) rs369386099 0.00070
NM_004821.3(HAND1):c.122A>G (p.Tyr41Cys) rs564241048 0.00004
NM_004821.3(HAND1):c.174G>C (p.Ala58=) rs761768832 0.00002
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.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
NM_004821.3(HAND1):c.117G>C (p.Arg39Ser)
NM_004821.3(HAND1):c.128A>G (p.Gln43Arg)
NM_004821.3(HAND1):c.135G>T (p.Trp45Cys)
NM_004821.3(HAND1):c.152A>T (p.Asp51Val)
NM_004821.3(HAND1):c.161C>G (p.Pro54Arg)
NM_004821.3(HAND1):c.174G>A (p.Ala58=)
NM_004821.3(HAND1):c.183G>A (p.Pro61=)
NM_004821.3(HAND1):c.202G>C (p.Ala68Pro)
NM_004821.3(HAND1):c.204C>T (p.Ala68=)
NM_004821.3(HAND1):c.219T>C (p.Gly73=)
NM_004821.3(HAND1):c.225C>T (p.Asp75=)
NM_004821.3(HAND1):c.237G>A (p.Gly79=)
NM_004821.3(HAND1):c.245C>T (p.Pro82Leu)
NM_004821.3(HAND1):c.252G>A (p.Arg84=)
NM_004821.3(HAND1):c.261G>T (p.Ala87=)
NM_004821.3(HAND1):c.271C>A (p.Arg91Ser)
NM_004821.3(HAND1):c.279C>T (p.Gly93=)
NM_004821.3(HAND1):c.289G>T (p.Gly97Cys) rs878854746
NM_004821.3(HAND1):c.339A>G (p.Ala113=)
NM_004821.3(HAND1):c.345G>T (p.Ala115=)
NM_004821.3(HAND1):c.357G>C (p.Glu119Asp)
NM_004821.3(HAND1):c.400A>T (p.Lys134Ter)
NM_004821.3(HAND1):c.454A>G (p.Lys152Glu)
NM_004821.3(HAND1):c.468T>C (p.Ser156=)
NM_004821.3(HAND1):c.46C>A (p.Pro16Thr)
NM_004821.3(HAND1):c.496C>T (p.Leu166Phe)
NM_004821.3(HAND1):c.504G>A (p.Lys168=)
NM_004821.3(HAND1):c.518G>T (p.Arg173Leu)
NM_004821.3(HAND1):c.544-18C>G
NM_004821.3(HAND1):c.564T>C (p.Pro188=)
NM_004821.3(HAND1):c.566C>T (p.Pro189Leu)
NM_004821.3(HAND1):c.574G>A (p.Gly192Ser)
NM_004821.3(HAND1):c.587A>G (p.Lys196Arg) rs878854747
NM_004821.3(HAND1):c.600A>C (p.Gly200=)
NM_004821.3(HAND1):c.604A>G (p.Thr202Ala)
NM_004821.3(HAND1):c.62C>T (p.Pro21Leu)
NM_004821.3(HAND1):c.66_73dup (p.Glu25fs)
NM_004821.3(HAND1):c.67C>T (p.Leu23Phe)

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