ClinVar Miner

List of variants reported as uncertain significance for Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome by Invitae

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ClinVar version:
Total variants: 167
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HGVS dbSNP gnomAD frequency
NM_014423.4(AFF4):c.1067A>G (p.Asn356Ser) rs145445063 0.00019
NM_014423.4(AFF4):c.1237C>A (p.Pro413Thr) rs148886341 0.00011
NM_014423.4(AFF4):c.587G>A (p.Arg196Lys) rs182027704 0.00009
NM_014423.4(AFF4):c.1204A>G (p.Met402Val) rs368333989 0.00006
NM_014423.4(AFF4):c.1835A>G (p.Asn612Ser) rs145031583 0.00006
NM_014423.4(AFF4):c.2027T>G (p.Val676Gly) rs373239602 0.00004
NM_014423.4(AFF4):c.1865G>A (p.Arg622Gln) rs780325609 0.00003
NM_014423.4(AFF4):c.473A>G (p.Asn158Ser) rs1022009453 0.00003
NM_014423.4(AFF4):c.2446G>A (p.Ala816Thr) rs750323931 0.00002
NM_014423.4(AFF4):c.2491C>T (p.Arg831Trp) rs374444704 0.00002
NM_014423.4(AFF4):c.71G>T (p.Gly24Val) rs1318550187 0.00002
NM_014423.4(AFF4):c.1208C>T (p.Pro403Leu) rs1385541325 0.00001
NM_014423.4(AFF4):c.1268_1270dup (p.Asn423_Ser424insTyr) rs764600828 0.00001
NM_014423.4(AFF4):c.1589G>T (p.Gly530Val) rs1411633307 0.00001
NM_014423.4(AFF4):c.164T>C (p.Met55Thr) rs372786258 0.00001
NM_014423.4(AFF4):c.2015A>G (p.Asn672Ser) rs959176441 0.00001
NM_014423.4(AFF4):c.2303A>G (p.His768Arg) rs144628972 0.00001
NM_014423.4(AFF4):c.2359A>G (p.Lys787Glu) rs746518188 0.00001
NM_014423.4(AFF4):c.2995A>G (p.Thr999Ala) rs780871066 0.00001
NM_014423.4(AFF4):c.3170T>C (p.Val1057Ala) rs1484284468 0.00001
NM_014423.4(AFF4):c.3218C>T (p.Ala1073Val) rs1424102789 0.00001
NM_014423.4(AFF4):c.40C>T (p.Arg14Trp) rs759650836 0.00001
NM_014423.4(AFF4):c.454G>A (p.Asp152Asn) rs760079635 0.00001
NM_014423.4(AFF4):c.7C>T (p.Arg3Cys) rs764154717 0.00001
NM_014423.4(AFF4):c.844A>C (p.Asn282His) rs760426736 0.00001
NM_014423.4(AFF4):c.880C>T (p.His294Tyr) rs571366609 0.00001
NM_014423.4(AFF4):c.1000A>G (p.Ile334Val)
NM_014423.4(AFF4):c.1023A>C (p.Glu341Asp)
NM_014423.4(AFF4):c.1039T>C (p.Phe347Leu)
NM_014423.4(AFF4):c.1048A>G (p.Lys350Glu)
NM_014423.4(AFF4):c.1055C>T (p.Ser352Phe)
NM_014423.4(AFF4):c.1088-20C>G
NM_014423.4(AFF4):c.1114A>G (p.Asn372Asp)
NM_014423.4(AFF4):c.1122C>G (p.His374Gln) rs746005385
NM_014423.4(AFF4):c.1133+3A>G rs1760573869
NM_014423.4(AFF4):c.1133C>T (p.Ser378Phe)
NM_014423.4(AFF4):c.1175G>C (p.Ser392Thr)
NM_014423.4(AFF4):c.1226+12T>C
NM_014423.4(AFF4):c.1226+17_1226+21del
NM_014423.4(AFF4):c.1226+3G>T
NM_014423.4(AFF4):c.123+3A>G rs1761449425
NM_014423.4(AFF4):c.124-3T>C
NM_014423.4(AFF4):c.1264G>T (p.Asp422Tyr)
NM_014423.4(AFF4):c.1277A>G (p.Asp426Gly)
NM_014423.4(AFF4):c.1279G>A (p.Asp427Asn)
NM_014423.4(AFF4):c.1387G>A (p.Glu463Lys)
NM_014423.4(AFF4):c.1397C>T (p.Pro466Leu)
NM_014423.4(AFF4):c.1457T>A (p.Val486Glu)
NM_014423.4(AFF4):c.1457T>G (p.Val486Gly)
NM_014423.4(AFF4):c.145T>C (p.Ser49Pro)
NM_014423.4(AFF4):c.1551T>G (p.Asp517Glu)
NM_014423.4(AFF4):c.1559G>T (p.Gly520Val)
NM_014423.4(AFF4):c.1562C>G (p.Pro521Arg)
NM_014423.4(AFF4):c.1565A>C (p.Lys522Thr)
NM_014423.4(AFF4):c.1571C>T (p.Thr524Met)
NM_014423.4(AFF4):c.1607T>C (p.Ile536Thr)
NM_014423.4(AFF4):c.1631G>A (p.Arg544His)
NM_014423.4(AFF4):c.1673A>C (p.Gln558Pro)
NM_014423.4(AFF4):c.1709C>T (p.Ala570Val) rs754975152
NM_014423.4(AFF4):c.1732C>G (p.Pro578Ala)
NM_014423.4(AFF4):c.1766C>A (p.Pro589His)
NM_014423.4(AFF4):c.1772A>T (p.Asp591Val)
NM_014423.4(AFF4):c.178G>A (p.Asp60Asn) rs2150099058
NM_014423.4(AFF4):c.1795A>G (p.Ser599Gly)
NM_014423.4(AFF4):c.1806A>T (p.Lys602Asn)
NM_014423.4(AFF4):c.1839A>G (p.Ile613Met)
NM_014423.4(AFF4):c.1847A>G (p.Glu616Gly)
NM_014423.4(AFF4):c.1864C>T (p.Arg622Ter)
NM_014423.4(AFF4):c.1870A>G (p.Thr624Ala)
NM_014423.4(AFF4):c.1889A>G (p.Tyr630Cys)
NM_014423.4(AFF4):c.1918T>C (p.Ser640Pro)
NM_014423.4(AFF4):c.1975C>T (p.Leu659Phe)
NM_014423.4(AFF4):c.197T>C (p.Ile66Thr)
NM_014423.4(AFF4):c.1982C>G (p.Pro661Arg)
NM_014423.4(AFF4):c.1999A>G (p.Lys667Glu)
NM_014423.4(AFF4):c.19A>C (p.Asn7His)
NM_014423.4(AFF4):c.2045A>G (p.Glu682Gly)
NM_014423.4(AFF4):c.2108C>T (p.Ser703Leu) rs1581278077
NM_014423.4(AFF4):c.2123C>T (p.Pro708Leu)
NM_014423.4(AFF4):c.2198A>T (p.Glu733Val)
NM_014423.4(AFF4):c.2207C>T (p.Pro736Leu)
NM_014423.4(AFF4):c.2233C>T (p.Pro745Ser)
NM_014423.4(AFF4):c.2234C>T (p.Pro745Leu)
NM_014423.4(AFF4):c.2236G>C (p.Glu746Gln) rs2150072399
NM_014423.4(AFF4):c.2240A>G (p.Lys747Arg)
NM_014423.4(AFF4):c.2257C>G (p.Gln753Glu)
NM_014423.4(AFF4):c.2272G>A (p.Glu758Lys)
NM_014423.4(AFF4):c.2277A>C (p.Lys759Asn)
NM_014423.4(AFF4):c.229A>T (p.Ile77Phe)
NM_014423.4(AFF4):c.2344C>T (p.Pro782Ser)
NM_014423.4(AFF4):c.2351C>T (p.Thr784Met)
NM_014423.4(AFF4):c.2396+5G>A
NM_014423.4(AFF4):c.2397-19C>T
NM_014423.4(AFF4):c.239C>G (p.Pro80Arg)
NM_014423.4(AFF4):c.2459C>G (p.Pro820Arg)
NM_014423.4(AFF4):c.247C>A (p.Pro83Thr)
NM_014423.4(AFF4):c.2482C>T (p.His828Tyr)
NM_014423.4(AFF4):c.2485G>C (p.Gly829Arg) rs763295786
NM_014423.4(AFF4):c.2507G>A (p.Ser836Asn)
NM_014423.4(AFF4):c.2547G>C (p.Lys849Asn)
NM_014423.4(AFF4):c.2552C>T (p.Thr851Met)
NM_014423.4(AFF4):c.2590C>G (p.Gln864Glu) rs2150069583
NM_014423.4(AFF4):c.2606G>A (p.Gly869Glu)
NM_014423.4(AFF4):c.2615C>G (p.Ser872Cys)
NM_014423.4(AFF4):c.2624C>T (p.Ser875Phe)
NM_014423.4(AFF4):c.2644G>C (p.Ala882Pro)
NM_014423.4(AFF4):c.2705G>A (p.Arg902Gln)
NM_014423.4(AFF4):c.2719G>A (p.Val907Ile)
NM_014423.4(AFF4):c.2801A>T (p.Asp934Val)
NM_014423.4(AFF4):c.308A>T (p.His103Leu)
NM_014423.4(AFF4):c.3099+2T>C rs1554073525
NM_014423.4(AFF4):c.3109AAT[1] (p.Asn1038del)
NM_014423.4(AFF4):c.3116C>T (p.Ser1039Phe) rs1369152967
NM_014423.4(AFF4):c.3128C>T (p.Ser1043Leu)
NM_014423.4(AFF4):c.3166C>G (p.Pro1056Ala)
NM_014423.4(AFF4):c.316A>G (p.Ser106Gly) rs1001396258
NM_014423.4(AFF4):c.318C>A (p.Ser106Arg) rs1761386475
NM_014423.4(AFF4):c.3242C>G (p.Ser1081Cys)
NM_014423.4(AFF4):c.3274A>G (p.Met1092Val)
NM_014423.4(AFF4):c.3289G>A (p.Val1097Ile)
NM_014423.4(AFF4):c.329C>T (p.Pro110Leu)
NM_014423.4(AFF4):c.3320C>T (p.Thr1107Ile)
NM_014423.4(AFF4):c.3353A>G (p.Lys1118Arg) rs1413801635
NM_014423.4(AFF4):c.3358C>G (p.Gln1120Glu)
NM_014423.4(AFF4):c.3364+7A>G
NM_014423.4(AFF4):c.3425C>T (p.Thr1142Ile)
NM_014423.4(AFF4):c.3475G>A (p.Ala1159Thr)
NM_014423.4(AFF4):c.371C>A (p.Ser124Tyr)
NM_014423.4(AFF4):c.395G>A (p.Ser132Asn)
NM_014423.4(AFF4):c.397_399dup (p.Ser133_Gln134insSer)
NM_014423.4(AFF4):c.404G>A (p.Arg135Gln)
NM_014423.4(AFF4):c.41G>A (p.Arg14Gln)
NM_014423.4(AFF4):c.455A>G (p.Asp152Gly) rs1761381810
NM_014423.4(AFF4):c.458G>A (p.Arg153His)
NM_014423.4(AFF4):c.467A>G (p.Tyr156Cys)
NM_014423.4(AFF4):c.484A>G (p.Ser162Gly)
NM_014423.4(AFF4):c.490C>T (p.Arg164Trp)
NM_014423.4(AFF4):c.493A>C (p.Lys165Gln) rs2150098662
NM_014423.4(AFF4):c.516_518dup (p.Glu172_His173insGln) rs755428630
NM_014423.4(AFF4):c.529C>T (p.Arg177Cys)
NM_014423.4(AFF4):c.556G>A (p.Ala186Thr)
NM_014423.4(AFF4):c.557C>G (p.Ala186Gly)
NM_014423.4(AFF4):c.559G>A (p.Val187Ile)
NM_014423.4(AFF4):c.560T>C (p.Val187Ala)
NM_014423.4(AFF4):c.580C>A (p.His194Asn)
NM_014423.4(AFF4):c.626G>A (p.Arg209His)
NM_014423.4(AFF4):c.634T>C (p.Ser212Pro)
NM_014423.4(AFF4):c.647C>G (p.Pro216Arg) rs2150098464
NM_014423.4(AFF4):c.673C>T (p.Arg225Cys)
NM_014423.4(AFF4):c.674G>A (p.Arg225His)
NM_014423.4(AFF4):c.680C>A (p.Pro227His)
NM_014423.4(AFF4):c.73G>A (p.Glu25Lys)
NM_014423.4(AFF4):c.73G>C (p.Glu25Gln)
NM_014423.4(AFF4):c.746T>C (p.Met249Thr)
NM_014423.4(AFF4):c.764C>T (p.Ala255Val)
NM_014423.4(AFF4):c.767A>G (p.Tyr256Cys) rs2150098319
NM_014423.4(AFF4):c.773G>A (p.Arg258Gln) rs2150098310
NM_014423.4(AFF4):c.79G>A (p.Ala27Thr)
NM_014423.4(AFF4):c.820C>T (p.His274Tyr)
NM_014423.4(AFF4):c.824A>G (p.Tyr275Cys)
NM_014423.4(AFF4):c.830G>T (p.Ser277Ile) rs141068875
NM_014423.4(AFF4):c.850A>G (p.Met284Val)
NM_014423.4(AFF4):c.92G>A (p.Ser31Asn)
NM_014423.4(AFF4):c.935A>G (p.Asp312Gly)
NM_014423.4(AFF4):c.95C>G (p.Ser32Cys)
NM_014423.4(AFF4):c.971C>T (p.Thr324Met)
NM_014423.4(AFF4):c.991C>G (p.Leu331Val)

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