ClinVar Miner

List of variants in gene SHANK1 reported as uncertain significance by Ambry Genetics

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Gene type:
ClinVar version:
Total variants: 167
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HGVS dbSNP gnomAD frequency
NM_016148.5(SHANK1):c.4022C>T (p.Pro1341Leu) rs1027712825 0.00001
NM_016148.5(SHANK1):c.1015G>A (p.Glu339Lys)
NM_016148.5(SHANK1):c.1145C>A (p.Thr382Asn)
NM_016148.5(SHANK1):c.1208G>A (p.Arg403Gln)
NM_016148.5(SHANK1):c.1223-3C>T
NM_016148.5(SHANK1):c.1250C>T (p.Ala417Val)
NM_016148.5(SHANK1):c.1265G>T (p.Gly422Val)
NM_016148.5(SHANK1):c.1306C>T (p.Arg436Trp)
NM_016148.5(SHANK1):c.134G>T (p.Ser45Ile)
NM_016148.5(SHANK1):c.1360C>T (p.Pro454Ser)
NM_016148.5(SHANK1):c.1369G>C (p.Ala457Pro)
NM_016148.5(SHANK1):c.1408G>A (p.Gly470Ser)
NM_016148.5(SHANK1):c.1415C>T (p.Ser472Leu)
NM_016148.5(SHANK1):c.1450G>A (p.Gly484Arg)
NM_016148.5(SHANK1):c.1450G>C (p.Gly484Arg)
NM_016148.5(SHANK1):c.1489G>T (p.Ala497Ser)
NM_016148.5(SHANK1):c.1505G>A (p.Arg502Gln)
NM_016148.5(SHANK1):c.1525G>A (p.Ala509Thr)
NM_016148.5(SHANK1):c.1561G>A (p.Gly521Arg)
NM_016148.5(SHANK1):c.1594G>A (p.Gly532Arg)
NM_016148.5(SHANK1):c.1607G>C (p.Gly536Ala)
NM_016148.5(SHANK1):c.1612G>A (p.Gly538Arg)
NM_016148.5(SHANK1):c.1798G>C (p.Val600Leu)
NM_016148.5(SHANK1):c.1840C>T (p.Arg614Cys)
NM_016148.5(SHANK1):c.199G>A (p.Asp67Asn)
NM_016148.5(SHANK1):c.2083G>A (p.Ala695Thr)
NM_016148.5(SHANK1):c.2134T>C (p.Trp712Arg)
NM_016148.5(SHANK1):c.2138G>A (p.Arg713Gln)
NM_016148.5(SHANK1):c.214A>G (p.Met72Val)
NM_016148.5(SHANK1):c.2150G>A (p.Arg717Gln)
NM_016148.5(SHANK1):c.2153T>C (p.Met718Thr)
NM_016148.5(SHANK1):c.2206C>T (p.Arg736Ter)
NM_016148.5(SHANK1):c.2234G>A (p.Gly745Glu)
NM_016148.5(SHANK1):c.2243C>T (p.Thr748Met)
NM_016148.5(SHANK1):c.2383G>A (p.Glu795Lys)
NM_016148.5(SHANK1):c.2395G>A (p.Glu799Lys)
NM_016148.5(SHANK1):c.2405C>G (p.Pro802Arg)
NM_016148.5(SHANK1):c.2476C>G (p.Leu826Val)
NM_016148.5(SHANK1):c.2497A>G (p.Ile833Val)
NM_016148.5(SHANK1):c.2579C>T (p.Ser860Leu)
NM_016148.5(SHANK1):c.2621G>T (p.Arg874Leu)
NM_016148.5(SHANK1):c.2659C>T (p.Arg887Trp)
NM_016148.5(SHANK1):c.2678C>T (p.Ala893Val)
NM_016148.5(SHANK1):c.2686G>C (p.Asp896His)
NM_016148.5(SHANK1):c.2812G>A (p.Val938Ile)
NM_016148.5(SHANK1):c.2858C>T (p.Pro953Leu)
NM_016148.5(SHANK1):c.2911G>A (p.Asp971Asn)
NM_016148.5(SHANK1):c.2921C>T (p.Ser974Phe)
NM_016148.5(SHANK1):c.2984C>T (p.Pro995Leu)
NM_016148.5(SHANK1):c.2990ACC[2] (p.His999del)
NM_016148.5(SHANK1):c.3071C>A (p.Pro1024His)
NM_016148.5(SHANK1):c.3113G>A (p.Arg1038His)
NM_016148.5(SHANK1):c.3170C>G (p.Pro1057Arg)
NM_016148.5(SHANK1):c.3185C>T (p.Pro1062Leu)
NM_016148.5(SHANK1):c.3223G>A (p.Gly1075Ser)
NM_016148.5(SHANK1):c.3226T>C (p.Ser1076Pro)
NM_016148.5(SHANK1):c.325G>A (p.Glu109Lys)
NM_016148.5(SHANK1):c.3380C>T (p.Pro1127Leu)
NM_016148.5(SHANK1):c.3430G>A (p.Val1144Met)
NM_016148.5(SHANK1):c.3430G>C (p.Val1144Leu)
NM_016148.5(SHANK1):c.3436G>T (p.Ala1146Ser)
NM_016148.5(SHANK1):c.3592C>G (p.Pro1198Ala)
NM_016148.5(SHANK1):c.3601G>T (p.Ala1201Ser)
NM_016148.5(SHANK1):c.3638C>T (p.Pro1213Leu)
NM_016148.5(SHANK1):c.3686C>T (p.Thr1229Met)
NM_016148.5(SHANK1):c.3695T>G (p.Phe1232Cys)
NM_016148.5(SHANK1):c.3707T>G (p.Leu1236Arg)
NM_016148.5(SHANK1):c.370A>G (p.Thr124Ala)
NM_016148.5(SHANK1):c.370A>T (p.Thr124Ser)
NM_016148.5(SHANK1):c.3710T>G (p.Val1237Gly)
NM_016148.5(SHANK1):c.3716C>G (p.Ala1239Gly)
NM_016148.5(SHANK1):c.3808G>A (p.Gly1270Ser)
NM_016148.5(SHANK1):c.3833C>G (p.Pro1278Arg)
NM_016148.5(SHANK1):c.384T>G (p.Asp128Glu)
NM_016148.5(SHANK1):c.3919G>A (p.Gly1307Ser)
NM_016148.5(SHANK1):c.3974G>A (p.Gly1325Asp)
NM_016148.5(SHANK1):c.4016T>C (p.Val1339Ala)
NM_016148.5(SHANK1):c.4070T>C (p.Leu1357Pro)
NM_016148.5(SHANK1):c.4085G>A (p.Arg1362Gln)
NM_016148.5(SHANK1):c.40C>T (p.His14Tyr)
NM_016148.5(SHANK1):c.4117G>C (p.Ala1373Pro)
NM_016148.5(SHANK1):c.4124A>T (p.Gln1375Leu)
NM_016148.5(SHANK1):c.4154A>G (p.Tyr1385Cys)
NM_016148.5(SHANK1):c.4196C>G (p.Ala1399Gly)
NM_016148.5(SHANK1):c.4235C>T (p.Pro1412Leu)
NM_016148.5(SHANK1):c.4250G>T (p.Arg1417Leu)
NM_016148.5(SHANK1):c.425C>T (p.Pro142Leu)
NM_016148.5(SHANK1):c.4262G>C (p.Gly1421Ala)
NM_016148.5(SHANK1):c.4267A>G (p.Arg1423Gly)
NM_016148.5(SHANK1):c.4297C>G (p.Leu1433Val)
NM_016148.5(SHANK1):c.4300C>T (p.Pro1434Ser)
NM_016148.5(SHANK1):c.4310C>G (p.Pro1437Arg)
NM_016148.5(SHANK1):c.4313C>T (p.Pro1438Leu)
NM_016148.5(SHANK1):c.4358C>T (p.Pro1453Leu)
NM_016148.5(SHANK1):c.4410C>G (p.His1470Gln)
NM_016148.5(SHANK1):c.4414G>A (p.Gly1472Arg)
NM_016148.5(SHANK1):c.4456G>A (p.Glu1486Lys)
NM_016148.5(SHANK1):c.4489A>C (p.Asn1497His)
NM_016148.5(SHANK1):c.44G>C (p.Ser15Thr)
NM_016148.5(SHANK1):c.4505C>T (p.Ala1502Val)
NM_016148.5(SHANK1):c.4524G>C (p.Arg1508Ser)
NM_016148.5(SHANK1):c.4528C>T (p.Pro1510Ser)
NM_016148.5(SHANK1):c.4552G>A (p.Val1518Ile)
NM_016148.5(SHANK1):c.4565G>T (p.Ser1522Ile)
NM_016148.5(SHANK1):c.4586C>G (p.Pro1529Arg)
NM_016148.5(SHANK1):c.4592C>T (p.Pro1531Leu)
NM_016148.5(SHANK1):c.4747C>T (p.Pro1583Ser)
NM_016148.5(SHANK1):c.4759G>A (p.Gly1587Arg)
NM_016148.5(SHANK1):c.4769A>C (p.His1590Pro)
NM_016148.5(SHANK1):c.4823C>G (p.Pro1608Arg)
NM_016148.5(SHANK1):c.4918G>A (p.Ala1640Thr)
NM_016148.5(SHANK1):c.4921G>A (p.Ala1641Thr)
NM_016148.5(SHANK1):c.4933C>A (p.Pro1645Thr)
NM_016148.5(SHANK1):c.4945G>C (p.Gly1649Arg)
NM_016148.5(SHANK1):c.4955C>T (p.Ala1652Val)
NM_016148.5(SHANK1):c.4982C>T (p.Pro1661Leu)
NM_016148.5(SHANK1):c.5009G>C (p.Gly1670Ala)
NM_016148.5(SHANK1):c.5068A>T (p.Thr1690Ser)
NM_016148.5(SHANK1):c.5090T>C (p.Leu1697Pro)
NM_016148.5(SHANK1):c.5119A>G (p.Ser1707Gly)
NM_016148.5(SHANK1):c.5137G>A (p.Gly1713Arg)
NM_016148.5(SHANK1):c.5165C>T (p.Pro1722Leu)
NM_016148.5(SHANK1):c.5213G>C (p.Gly1738Ala)
NM_016148.5(SHANK1):c.5261C>A (p.Pro1754His)
NM_016148.5(SHANK1):c.5273G>A (p.Arg1758Gln)
NM_016148.5(SHANK1):c.5296G>C (p.Gly1766Arg)
NM_016148.5(SHANK1):c.52G>C (p.Glu18Gln)
NM_016148.5(SHANK1):c.5374G>T (p.Ala1792Ser)
NM_016148.5(SHANK1):c.5395G>T (p.Ala1799Ser)
NM_016148.5(SHANK1):c.5417C>T (p.Pro1806Leu)
NM_016148.5(SHANK1):c.5428G>A (p.Gly1810Ser)
NM_016148.5(SHANK1):c.5441G>T (p.Gly1814Val)
NM_016148.5(SHANK1):c.5485A>C (p.Thr1829Pro)
NM_016148.5(SHANK1):c.5486C>T (p.Thr1829Met)
NM_016148.5(SHANK1):c.5537C>T (p.Pro1846Leu)
NM_016148.5(SHANK1):c.5585C>T (p.Ala1862Val)
NM_016148.5(SHANK1):c.5672T>C (p.Leu1891Pro)
NM_016148.5(SHANK1):c.568G>A (p.Gly190Arg)
NM_016148.5(SHANK1):c.5734G>A (p.Val1912Ile)
NM_016148.5(SHANK1):c.574T>C (p.Ser192Pro)
NM_016148.5(SHANK1):c.5762G>A (p.Arg1921Gln)
NM_016148.5(SHANK1):c.5806C>A (p.Pro1936Thr)
NM_016148.5(SHANK1):c.5849C>T (p.Pro1950Leu)
NM_016148.5(SHANK1):c.5891C>T (p.Ala1964Val)
NM_016148.5(SHANK1):c.5941C>A (p.Arg1981Ser)
NM_016148.5(SHANK1):c.5965G>A (p.Glu1989Lys)
NM_016148.5(SHANK1):c.5970G>A (p.Met1990Ile)
NM_016148.5(SHANK1):c.5971C>T (p.Arg1991Trp)
NM_016148.5(SHANK1):c.6005C>T (p.Ser2002Leu)
NM_016148.5(SHANK1):c.6041C>T (p.Ala2014Val)
NM_016148.5(SHANK1):c.6121G>A (p.Gly2041Arg)
NM_016148.5(SHANK1):c.6137C>T (p.Ser2046Leu)
NM_016148.5(SHANK1):c.6167C>T (p.Pro2056Leu)
NM_016148.5(SHANK1):c.6214G>A (p.Ala2072Thr)
NM_016148.5(SHANK1):c.6214G>T (p.Ala2072Ser)
NM_016148.5(SHANK1):c.6215C>T (p.Ala2072Val)
NM_016148.5(SHANK1):c.6221G>A (p.Arg2074His)
NM_016148.5(SHANK1):c.6229T>C (p.Ser2077Pro)
NM_016148.5(SHANK1):c.6244C>G (p.Leu2082Val)
NM_016148.5(SHANK1):c.6373G>A (p.Asp2125Asn)
NM_016148.5(SHANK1):c.6391G>A (p.Ala2131Thr)
NM_016148.5(SHANK1):c.6458G>A (p.Arg2153Gln) rs976098547
NM_016148.5(SHANK1):c.670G>A (p.Glu224Lys)
NM_016148.5(SHANK1):c.68G>A (p.Gly23Asp)
NM_016148.5(SHANK1):c.794C>T (p.Ala265Val)
NM_016148.5(SHANK1):c.812G>C (p.Gly271Ala)
NM_016148.5(SHANK1):c.92A>G (p.Asp31Gly)

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