ClinVar Miner

List of variants reported as uncertain significance for Esophageal atresia; Pyloric stenosis by Clinical Genetics, Erasmus University Medical Center

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Total variants: 30
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HGVS dbSNP gnomAD frequency
NM_000208.4(INSR):c.3364G>A (p.Ala1122Thr) rs1250061465
NM_000719.7(CACNA1C):c.5761C>T (p.Pro1921Ser) rs1603462691
NM_001007237.3(IGSF3):c.1841G>T (p.Arg614Leu) rs190300523
NM_001034853.2(RPGR):c.780G>T (p.Glu260Asp) rs1328506002
NM_001083962.2(TCF4):c.337G>C (p.Gly113Arg) rs1556050492
NM_001104631.2(PDE4D):c.1339T>C (p.Tyr447His) rs1580132131
NM_001130021.3(ATP6V0A1):c.1340G>A (p.Arg447Gln) rs1204448380
NM_001256.6(CDC27):c.4A>G (p.Thr2Ala) rs62077280
NM_001288718.2(STAT5A):c.1279G>A (p.Ala427Thr) rs1598364148
NM_001347217.2(WDR13):c.911C>T (p.Thr304Ile) rs1602147382
NM_001374736.1(DST):c.11993C>G (p.Ser3998Ter) rs1586153937
NM_001382508.1(DROSHA):c.323G>A (p.Arg108Lys) rs1580396270
NM_001387011.1(AMBRA1):c.431C>T (p.Ala144Val) rs1565279367
NM_001389.5(DSCAM):c.4979T>A (p.Ile1660Asn) rs1601280227
NM_001395460.1(TENM2):c.4165C>A (p.Leu1389Met) rs1581659572
NM_002211.4(ITGB1):c.2252G>A (p.Trp751Ter) rs1593853217
NM_002235.5(KCNA6):c.233A>G (p.Asp78Gly) rs1591588696
NM_002249.6(KCNN3):c.200AGC[16] (p.Gln79_Gln80dup) rs3831942
NM_006622.4(PLK2):c.1049C>T (p.Thr350Ile) rs1579964675
NM_006747.4(SIPA1):c.367A>G (p.Ser123Gly) rs1590917647
NM_012216.4(MID2):c.1757T>C (p.Ile586Thr) rs1602513371
NM_017617.5(NOTCH1):c.6032T>C (p.Leu2011Pro) rs1589054568
NM_017633.3(TENT5A):c.26C>G (p.Ala9Gly) rs1581992148
NM_017633.3(TENT5A):c.64C>G (p.Pro22Ala) rs1581992092
NM_152296.5(ATP1A3):c.1978C>A (p.Leu660Ile) rs1599713761
NM_153006.3(NAGS):c.1378C>G (p.Leu460Val) rs1272126077
NM_198253.3(TERT):c.1185G>T (p.Glu395Asp) rs1579596881
NM_198390.3(CMIP):c.1478C>G (p.Thr493Ser) rs1597258512
NM_198904.4(GABRG2):c.155A>G (p.Asn52Ser) rs1581342223
NM_207322.3(C2CD4A):c.284A>C (p.His95Pro) rs1596557030

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