ClinVar Miner

List of variants in gene combination MCFD2, TTC7A reported as uncertain significance for Multiple gastrointestinal atresias

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Total variants: 29
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HGVS dbSNP gnomAD frequency
NM_020458.4(TTC7A):c.71G>C (p.Gly24Ala) rs751550092 0.00017
NM_020458.4(TTC7A):c.163G>A (p.Ala55Thr) rs963602999 0.00002
NM_020458.4(TTC7A):c.46G>A (p.Glu16Lys) rs775389933 0.00002
NM_020458.4(TTC7A):c.59G>A (p.Cys20Tyr) rs762989436 0.00002
NM_020458.4(TTC7A):c.89C>T (p.Pro30Leu) rs750887765 0.00002
NM_020458.4(TTC7A):c.101G>A (p.Arg34Gln) rs1156510458 0.00001
NM_020458.4(TTC7A):c.124C>G (p.Pro42Ala) rs865919847 0.00001
NM_020458.4(TTC7A):c.142A>G (p.Arg48Gly) rs557981380 0.00001
NM_020458.4(TTC7A):c.148G>C (p.Gly50Arg) rs1288910906 0.00001
NM_020458.4(TTC7A):c.44G>C (p.Ser15Thr) rs550715352 0.00001
NM_020458.4(TTC7A):c.52G>C (p.Glu18Gln) rs1177931649 0.00001
NM_020458.4(TTC7A):c.61C>G (p.Arg21Gly) rs1315722693 0.00001
NM_020458.4(TTC7A):c.73C>T (p.His25Tyr) rs910842442 0.00001
NC_000002.11:g.(?_47132602)_(47177685_?)dup
NC_000002.11:g.(?_47132602)_(47206066_?)dup
NM_020458.4(TTC7A):c.113C>G (p.Thr38Arg) rs1179064463
NM_020458.4(TTC7A):c.113C>T (p.Thr38Met) rs1179064463
NM_020458.4(TTC7A):c.12G>T (p.Lys4Asn) rs1274237789
NM_020458.4(TTC7A):c.136G>C (p.Gly46Arg)
NM_020458.4(TTC7A):c.141C>A (p.Asn47Lys) rs1454748257
NM_020458.4(TTC7A):c.153C>G (p.Ser51Arg)
NM_020458.4(TTC7A):c.154C>A (p.Pro52Thr) rs906523542
NM_020458.4(TTC7A):c.154C>G (p.Pro52Ala) rs906523542
NM_020458.4(TTC7A):c.154C>T (p.Pro52Ser)
NM_020458.4(TTC7A):c.169A>G (p.Thr57Ala) rs1572671568
NM_020458.4(TTC7A):c.180C>G (p.Asp60Glu)
NM_020458.4(TTC7A):c.29A>T (p.Tyr10Phe) rs1041638738
NM_020458.4(TTC7A):c.35A>G (p.Lys12Arg)
NM_020458.4(TTC7A):c.61C>T (p.Arg21Cys) rs1315722693

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