ClinVar Miner

List of variants reported as uncertain significance for Multiple congenital anomalies-hypotonia-seizures syndrome 2

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Total variants: 126
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HGVS dbSNP gnomAD frequency
NM_002641.4(PIGA):c.1198C>T (p.Arg400Trp) rs772225061 0.00012
NM_002641.4(PIGA):c.61A>G (p.Ser21Gly) rs375401655 0.00007
NM_002641.4(PIGA):c.908A>C (p.His303Pro) rs139991272 0.00005
NM_002641.4(PIGA):c.1387G>A (p.Ala463Thr) rs774546648 0.00004
NM_002641.4(PIGA):c.982-3A>C rs370316738 0.00004
NM_002641.4(PIGA):c.286G>C (p.Val96Leu) rs146801580 0.00003
NM_002641.4(PIGA):c.1199G>A (p.Arg400Gln) rs1921825509 0.00002
NM_002641.4(PIGA):c.1222C>T (p.Pro408Ser) rs1314103115 0.00002
NM_002641.4(PIGA):c.1240G>C (p.Asp414His) rs768524297 0.00002
NM_002641.4(PIGA):c.517G>A (p.Val173Met) rs752395232 0.00002
NM_002641.4(PIGA):c.715+5T>C rs762891698 0.00002
NM_002641.4(PIGA):c.1177A>G (p.Arg393Gly) rs781095752 0.00001
NM_002641.4(PIGA):c.1204T>G (p.Ser402Ala) rs192475811 0.00001
NM_002641.4(PIGA):c.1255C>T (p.His419Tyr) rs746591138 0.00001
NM_002641.4(PIGA):c.1418G>C (p.Arg473Thr) rs773189052 0.00001
NM_002641.4(PIGA):c.1427A>G (p.Glu476Gly) rs775330646 0.00001
NM_002641.4(PIGA):c.1447A>G (p.Thr483Ala) rs745560847 0.00001
NM_002641.4(PIGA):c.182T>C (p.Ile61Thr) rs1006798135 0.00001
NM_002641.4(PIGA):c.247C>G (p.Leu83Val) rs1335237092 0.00001
NM_002641.4(PIGA):c.269A>G (p.Tyr90Cys) rs1445335859 0.00001
NM_002641.4(PIGA):c.300G>T (p.Gln100His) rs757482806 0.00001
NM_002641.4(PIGA):c.305C>T (p.Thr102Ile) rs754050083 0.00001
NM_002641.4(PIGA):c.35G>A (p.Arg12His) rs1380833875 0.00001
NM_002641.4(PIGA):c.400A>G (p.Met134Val) rs1922154798 0.00001
NM_002641.4(PIGA):c.526T>G (p.Cys176Gly) rs371466959 0.00001
NM_002641.4(PIGA):c.761A>G (p.Tyr254Cys) rs1279450118 0.00001
NM_002641.4(PIGA):c.849-10A>G rs1413431429 0.00001
NM_002641.4(PIGA):c.854G>A (p.Arg285His) rs1569178381 0.00001
NM_002641.4(PIGA):c.91C>T (p.Arg31Cys) rs780532806 0.00001
NM_002641.4(PIGA):c.981+5A>G rs994376694 0.00001
NC_000023.10:g.(?_15349318)_(15353655_?)dup
NC_000023.11:g.(?_15321486)_(15335533_?)dup
NM_002641.4(PIGA):c.1022C>T (p.Pro341Leu) rs2147717491
NM_002641.4(PIGA):c.1027A>G (p.Asn343Asp)
NM_002641.4(PIGA):c.1031T>G (p.Leu344Arg)
NM_002641.4(PIGA):c.1048C>T (p.Pro350Ser) rs372966902
NM_002641.4(PIGA):c.1063T>A (p.Leu355Met)
NM_002641.4(PIGA):c.1087A>G (p.Ile363Val)
NM_002641.4(PIGA):c.112G>A (p.Val38Ile) rs1555945533
NM_002641.4(PIGA):c.1131C>G (p.Ile377Met) rs2147717377
NM_002641.4(PIGA):c.1131_1139del (p.His378_Ile380del) rs1921919751
NM_002641.4(PIGA):c.1135A>G (p.Asn379Asp)
NM_002641.4(PIGA):c.1159T>A (p.Trp387Arg) rs2147717335
NM_002641.4(PIGA):c.1183G>A (p.Glu395Lys) rs1060499666
NM_002641.4(PIGA):c.1184A>G (p.Glu395Gly) rs1921917016
NM_002641.4(PIGA):c.1188+3A>G
NM_002641.4(PIGA):c.1201G>A (p.Val401Ile) rs759697480
NM_002641.4(PIGA):c.1201G>C (p.Val401Leu) rs759697480
NM_002641.4(PIGA):c.1213G>C (p.Ala405Pro)
NM_002641.4(PIGA):c.1225A>G (p.Met409Val) rs1921823118
NM_002641.4(PIGA):c.1235G>A (p.Arg412Gln) rs1602206653
NM_002641.4(PIGA):c.1261G>C (p.Gly421Arg) rs771058274
NM_002641.4(PIGA):c.1315C>G (p.Leu439Val) rs2147714748
NM_002641.4(PIGA):c.1319T>C (p.Ile440Thr)
NM_002641.4(PIGA):c.1348A>G (p.Ile450Val)
NM_002641.4(PIGA):c.1363A>G (p.Ile455Val)
NM_002641.4(PIGA):c.1369G>A (p.Ala457Thr) rs1440750558
NM_002641.4(PIGA):c.1399_1401del (p.Asn467del)
NM_002641.4(PIGA):c.144C>T (p.Gly48=) rs1922168318
NM_002641.4(PIGA):c.145G>A (p.Val49Met) rs1569180100
NM_002641.4(PIGA):c.154C>T (p.His52Tyr)
NM_002641.4(PIGA):c.166C>G (p.Leu56Val) rs1602212318
NM_002641.4(PIGA):c.19G>A (p.Ala7Thr) rs1922178646
NM_002641.4(PIGA):c.215A>G (p.His72Arg) rs1922164501
NM_002641.4(PIGA):c.227A>G (p.Asn76Ser) rs2147723949
NM_002641.4(PIGA):c.236G>A (p.Gly79Asp) rs2147723922
NM_002641.4(PIGA):c.238A>G (p.Ile80Val) rs1922163411
NM_002641.4(PIGA):c.23G>A (p.Gly8Glu) rs1602212451
NM_002641.4(PIGA):c.241C>T (p.Arg81Cys) rs1569180071
NM_002641.4(PIGA):c.242G>A (p.Arg81His) rs1922162801
NM_002641.4(PIGA):c.248T>C (p.Leu83Pro) rs1569180063
NM_002641.4(PIGA):c.26A>G (p.Asn9Ser) rs1922178080
NM_002641.4(PIGA):c.272A>G (p.Tyr91Cys)
NM_002641.4(PIGA):c.281T>C (p.Leu94Pro) rs1922159995
NM_002641.4(PIGA):c.289A>C (p.Met97Leu)
NM_002641.4(PIGA):c.296A>G (p.Asn99Ser)
NM_002641.4(PIGA):c.29G>A (p.Gly10Asp) rs1602212448
NM_002641.4(PIGA):c.301T>G (p.Ser101Ala)
NM_002641.4(PIGA):c.317T>C (p.Leu106Pro)
NM_002641.4(PIGA):c.322C>A (p.His108Asn) rs1922156380
NM_002641.4(PIGA):c.328C>G (p.Leu110Val)
NM_002641.4(PIGA):c.332C>T (p.Pro111Leu) rs2147723769
NM_002641.4(PIGA):c.342G>C (p.Arg114Ser)
NM_002641.4(PIGA):c.342G>T (p.Arg114Ser) rs1569180012
NM_002641.4(PIGA):c.348A>G (p.Ile116Met) rs1555945484
NM_002641.4(PIGA):c.368C>T (p.Thr123Met) rs1555945480
NM_002641.4(PIGA):c.371T>A (p.Ile124Lys)
NM_002641.4(PIGA):c.392T>A (p.Phe131Tyr) rs1922155142
NM_002641.4(PIGA):c.407A>G (p.His136Arg) rs1602212104
NM_002641.4(PIGA):c.424G>A (p.Ala142Thr) rs1569179995
NM_002641.4(PIGA):c.430A>T (p.Thr144Ser)
NM_002641.4(PIGA):c.433A>G (p.Met145Val) rs1922153772
NM_002641.4(PIGA):c.43G>C (p.Ala15Pro) rs369608621
NM_002641.4(PIGA):c.443A>G (p.Gln148Arg)
NM_002641.4(PIGA):c.446C>T (p.Thr149Ile)
NM_002641.4(PIGA):c.47C>T (p.Thr16Ile) rs1922176302
NM_002641.4(PIGA):c.481G>T (p.Asp161Tyr) rs1569179975
NM_002641.4(PIGA):c.49C>T (p.Leu17Phe)
NM_002641.4(PIGA):c.4G>A (p.Ala2Thr)
NM_002641.4(PIGA):c.514A>G (p.Thr172Ala) rs375707235
NM_002641.4(PIGA):c.538C>T (p.His180Tyr) rs1922149677
NM_002641.4(PIGA):c.541A>G (p.Ile181Val)
NM_002641.4(PIGA):c.565A>G (p.Lys189Glu) rs1922149379
NM_002641.4(PIGA):c.568G>A (p.Glu190Lys) rs1922149223
NM_002641.4(PIGA):c.56G>A (p.Arg19Gln) rs1555945553
NM_002641.4(PIGA):c.586G>A (p.Ala196Thr)
NM_002641.4(PIGA):c.599C>T (p.Pro200Leu) rs1922148351
NM_002641.4(PIGA):c.613G>A (p.Val205Ile) rs1064796260
NM_002641.4(PIGA):c.62G>A (p.Ser21Asn)
NM_002641.4(PIGA):c.640G>C (p.Asp214His) rs1922147618
NM_002641.4(PIGA):c.661A>G (p.Arg221Gly) rs1602211939
NM_002641.4(PIGA):c.676A>G (p.Ile226Val) rs1922146269
NM_002641.4(PIGA):c.677T>C (p.Ile226Thr) rs2147723521
NM_002641.4(PIGA):c.680C>G (p.Thr227Ser) rs767267768
NM_002641.4(PIGA):c.721G>A (p.Asp241Asn) rs2147718542
NM_002641.4(PIGA):c.73C>A (p.Leu25Ile)
NM_002641.4(PIGA):c.754C>G (p.Gln252Glu) rs2147718485
NM_002641.4(PIGA):c.783T>G (p.Ile261Met) rs1921959886
NM_002641.4(PIGA):c.790G>C (p.Glu264Gln) rs755799077
NM_002641.4(PIGA):c.853C>T (p.Arg285Cys) rs1921932909
NM_002641.4(PIGA):c.85A>G (p.Arg29Gly)
NM_002641.4(PIGA):c.908A>G (p.His303Arg)
NM_002641.4(PIGA):c.91C>G (p.Arg31Gly)
NM_002641.4(PIGA):c.955G>A (p.Val319Met) rs765961204
NM_002641.4(PIGA):c.981+4A>G rs1921929282
NM_002641.4(PIGA):c.98A>G (p.His33Arg) rs797044924

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