ClinVar Miner

List of variants studied for Heterotaxy, visceral, 5, autosomal by Labcorp Genetics (formerly Invitae), Labcorp

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Total variants: 73
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HGVS dbSNP gnomAD frequency
NM_018055.5(NODAL):c.494A>G (p.His165Arg) rs1904589 0.57001
NM_018055.5(NODAL):c.193+12C>T rs10999338 0.35588
NM_018055.5(NODAL):c.588C>G (p.Leu196=) rs2231959 0.00714
NM_018055.5(NODAL):c.216C>T (p.Asn72=) rs138195571 0.00124
NM_018055.5(NODAL):c.916C>T (p.His306Tyr) rs148708629 0.00082
NM_018055.5(NODAL):c.545C>T (p.Pro182Leu) rs143239895 0.00072
NM_018055.5(NODAL):c.357C>T (p.Pro119=) rs77151171 0.00062
NM_018055.5(NODAL):c.904C>T (p.Arg302Cys) rs150819707 0.00051
NM_018055.5(NODAL):c.972G>A (p.Leu324=) rs143903715 0.00051
NM_018055.5(NODAL):c.607G>A (p.Glu203Lys) rs10999334 0.00025
NM_018055.5(NODAL):c.548G>A (p.Arg183Gln) rs104894169 0.00023
NM_018055.5(NODAL):c.355C>T (p.Pro119Ser) rs140876376 0.00017
NM_018055.5(NODAL):c.531T>C (p.Ala177=) rs145468639 0.00017
NM_018055.5(NODAL):c.662G>A (p.Arg221Gln) rs138681813 0.00013
NM_018055.5(NODAL):c.1020C>T (p.Ile340=) rs142286836 0.00011
NM_018055.5(NODAL):c.281G>A (p.Arg94Gln) rs146018217 0.00009
NM_018055.5(NODAL):c.586C>T (p.Leu196Phe) rs200445211 0.00009
NM_018055.5(NODAL):c.9C>T (p.Ala3=) rs376002393 0.00009
NM_018055.5(NODAL):c.658T>C (p.Trp220Arg) rs776168916 0.00007
NM_018055.5(NODAL):c.816C>T (p.Asn272=) rs774058854 0.00007
NM_018055.5(NODAL):c.924C>T (p.Val308=) rs188029435 0.00007
NM_018055.5(NODAL):c.672G>A (p.Glu224=) rs745724942 0.00006
NM_018055.5(NODAL):c.778G>A (p.Gly260Arg) rs121909283 0.00004
NM_018055.5(NODAL):c.152C>T (p.Pro51Leu) rs534164882 0.00003
NM_018055.5(NODAL):c.474T>A (p.Pro158=) rs760060157 0.00003
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.222G>A (p.Thr74=) rs747485211 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.473C>T (p.Pro158Leu) rs772585502 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.891+1G>A rs878855044 0.00001
NM_018055.5(NODAL):c.959C>T (p.Pro320Leu) rs147251818 0.00001
NC_000010.10:g.(?_72179670)_(72360658_?)dup
NC_000010.10:g.(?_72183370)_(72201347_?)del
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.291G>T (p.Leu97=) rs573038805
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.397C>T (p.Gln133Ter) rs1447874899
NM_018055.5(NODAL):c.406C>T (p.Leu136=) rs1415658466
NM_018055.5(NODAL):c.419C>T (p.Thr140Ile) rs2132215381
NM_018055.5(NODAL):c.446del (p.Gly149fs) rs1589152470
NM_018055.5(NODAL):c.53A>G (p.Gln18Arg) rs1441391199
NM_018055.5(NODAL):c.546G>A (p.Pro182=)
NM_018055.5(NODAL):c.555del (p.Thr186fs) rs772802856
NM_018055.5(NODAL):c.560C>T (p.Pro187Leu)
NM_018055.5(NODAL):c.602C>T (p.Ser201Leu) rs934274234
NM_018055.5(NODAL):c.609G>A (p.Glu203=)
NM_018055.5(NODAL):c.648C>T (p.Ala216=)
NM_018055.5(NODAL):c.661C>A (p.Arg221=) rs144444359
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.759G>A (p.Gln253=) rs1554850001
NM_018055.5(NODAL):c.819C>G (p.Ala273=) rs749265748
NM_018055.5(NODAL):c.850G>T (p.Val284Phe)
NM_018055.5(NODAL):c.870G>A (p.Pro290=) rs763525961
NM_018055.5(NODAL):c.870G>T (p.Pro290=) rs763525961
NM_018055.5(NODAL):c.891+19G>C rs375311498
NM_018055.5(NODAL):c.891+2T>A rs1564667078
NM_018055.5(NODAL):c.914C>T (p.Pro305Leu) rs1486992639
NM_018055.5(NODAL):c.93G>A (p.Thr31=) rs776625558

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