ClinVar Miner

List of variants reported as likely pathogenic for History of neurodevelopmental disorder

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Total variants: 40
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HGVS dbSNP
NM_000156.6(GAMT):c.59G>T (p.Trp20Leu)
NM_000194.3(HPRT1):c.148G>C (p.Ala50Pro) rs1556026984
NM_000489.5(ATRX):c.6149T>C (p.Ile2050Thr) rs122445110
NM_000834.4(GRIN2B):c.4015_4016del (p.Met1339fs) rs1565453023
NM_001040142.2(SCN2A):c.2636G>C (p.Gly879Ala) rs1559376694
NM_001040142.2(SCN2A):c.5737C>T (p.Gln1913Ter) rs1553463850
NM_001079846.1(CREBBP):c.4379G>A (p.Arg1460Gln) rs1567269945
NM_001127221.1(CACNA1A):c.4991G>A (p.Arg1664Gln) rs121908247
NM_001184880.2(PCDH19):c.1682C>G (p.Pro561Arg) rs796052819
NM_001184880.2(PCDH19):c.593G>C (p.Arg198Pro)
NM_001184880.2(PCDH19):c.695A>G (p.Asn232Ser) rs587784299
NM_001271.4(CHD2):c.3221G>A (p.Arg1074Gln) rs1567152270
NM_001356.4(DDX3X):c.1538T>C (p.Val513Ala) rs1569240261
NM_001356.4(DDX3X):c.536_543+5inv rs1569237262
NM_001360.2(DHCR7):c.1190C>T (p.Ser397Leu)
NM_001360.2(DHCR7):c.1337G>A (p.Arg446Gln) rs751604696
NM_001376.5(DYNC1H1):c.10051A>T (p.Ile3351Phe) rs1567018763
NM_002024.5(FMR1):c.797G>A (p.Gly266Glu) rs1569545763
NM_002397.4(MEF2C):c.401_402+2delGTGT rs1561875779
NM_002547.3(OPHN1):c.1362-2A>G rs1569215808
NM_002578.5(PAK3):c.276+5G>A rs1569398792
NM_004187.4(KDM5C):c.1499C>T (p.Pro500Leu) rs1569273900
NM_004484.3(GPC3):c.1666G>A (p.Gly556Arg) rs267606850
NM_006516.3(SLC2A1):c.881C>T (p.Ser294Phe) rs1557645723
NM_006772.3(SYNGAP1):c.3794+2T>C rs1395368098
NM_006920.6(SCN1A):c.1663-2A>G
NM_006920.6(SCN1A):c.2591C>T (p.Thr864Met) rs121918623
NM_006920.6(SCN1A):c.2603T>G (p.Leu868Arg) rs1559200901
NM_006920.6(SCN1A):c.3935C>A (p.Pro1312His) rs1057521746
NM_006920.6(SCN1A):c.5273A>G (p.Tyr1758Cys) rs886039460
NM_006920.6(SCN1A):c.652T>C (p.Phe218Leu)
NM_007254.4(PNKP):c.937-2A>G rs1568660279
NM_014191.4(SCN8A):c.5279T>C (p.Met1760Thr) rs1555231012
NM_016219.4(MAN1B1):c.620+1del rs1564278864
NM_016729.3(FOLR1):c.639G>A (p.Trp213Ter)
NM_020988.3(GNAO1):c.520G>A (p.Asp174Asn) rs1567488305
NM_022089.4(ATP13A2):c.477+2T>G rs758014228
NM_031466.7(TRAPPC9):c.2276-1G>A rs1465738840
NM_033290.4(MID1):c.1342T>C (p.Tyr448His) rs1569270016
NM_033517.1(SHANK3):c.4540dup (p.Glu1514fs) rs1569116595

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