ClinVar Miner

List of variants reported as uncertain significance for Heterotaxy, visceral, 5, autosomal by Labcorp Genetics (formerly Invitae), Labcorp

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Total variants: 31
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HGVS dbSNP gnomAD frequency
NM_018055.5(NODAL):c.355C>T (p.Pro119Ser) rs140876376 0.00017
NM_018055.5(NODAL):c.586C>T (p.Leu196Phe) rs200445211 0.00009
NM_018055.5(NODAL):c.658T>C (p.Trp220Arg) rs776168916 0.00007
NM_018055.5(NODAL):c.835G>A (p.Glu279Lys) rs755116310 0.00003
NM_018055.5(NODAL):c.1012G>C (p.Asp338His) rs200946243 0.00002
NM_018055.5(NODAL):c.1039C>T (p.Leu347Phe) rs987421678 0.00001
NM_018055.5(NODAL):c.130A>C (p.Met44Leu) rs770936322 0.00001
NM_018055.5(NODAL):c.193+4G>A rs1465158418 0.00001
NM_018055.5(NODAL):c.211C>A (p.Gln71Lys) rs748403461 0.00001
NM_018055.5(NODAL):c.254A>G (p.Gln85Arg) rs1845347178 0.00001
NM_018055.5(NODAL):c.361A>T (p.Thr121Ser) rs1287933676 0.00001
NM_018055.5(NODAL):c.550C>T (p.Pro184Ser) rs752979542 0.00001
NM_018055.5(NODAL):c.661C>T (p.Arg221Trp) rs144444359 0.00001
NM_018055.5(NODAL):c.68C>T (p.Thr23Met) rs750115289 0.00001
NM_018055.5(NODAL):c.817G>A (p.Ala273Thr) rs770958126 0.00001
NM_018055.5(NODAL):c.869C>T (p.Pro290Leu) rs757713122 0.00001
NM_018055.5(NODAL):c.959C>T (p.Pro320Leu) rs147251818 0.00001
NC_000010.10:g.(?_72179670)_(72360658_?)dup
NM_018055.5(NODAL):c.107C>G (p.Ser36Trp) rs1380108149
NM_018055.5(NODAL):c.184C>G (p.Gln62Glu)
NM_018055.5(NODAL):c.272C>A (p.Ala91Asp) rs2493087235
NM_018055.5(NODAL):c.2T>C (p.Met1Thr) rs2493096439
NM_018055.5(NODAL):c.347A>T (p.Gln116Leu) rs1845345139
NM_018055.5(NODAL):c.419C>T (p.Thr140Ile) rs2132215381
NM_018055.5(NODAL):c.53A>G (p.Gln18Arg) rs1441391199
NM_018055.5(NODAL):c.560C>T (p.Pro187Leu)
NM_018055.5(NODAL):c.602C>T (p.Ser201Leu) rs934274234
NM_018055.5(NODAL):c.673G>A (p.Gly225Arg) rs1564667208
NM_018055.5(NODAL):c.679C>G (p.Leu227Val) rs1589152298
NM_018055.5(NODAL):c.850G>T (p.Val284Phe)
NM_018055.5(NODAL):c.914C>T (p.Pro305Leu) rs1486992639

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