ClinVar Miner

List of variants reported as likely pathogenic by Geisinger Autism and Developmental Medicine Institute,Geisinger Health System

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Total variants: 16
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HGVS dbSNP
NM_000314.7(PTEN):c.947T>C (p.Leu316Pro) rs1064793345
NM_000444.6(PHEX):c.1739A>G (p.His580Arg) rs1057521800
NM_000535.7(PMS2):c.1731_1732delinsAGT (p.Arg578fs) rs1057515572
NM_000540.2(RYR1):c.7836-1G>A rs1568507354
NM_001040142.2(SCN2A):c.3964G>A (p.Gly1322Arg) rs1057521223
NM_001083962.2(TCF4):c.1849G>T (p.Val617Phe) rs1568303086
NM_001170629.2(CHD8):c.6295G>A (p.Glu2099Lys) rs1555313219
NM_001330078.2(NRXN1):c.773-304_790+128del rs1553368900
NM_001330574.2(ZNF711):c.97dup (p.Thr33fs) rs1555970404
NM_001376.5(DYNC1H1):c.6490G>A (p.Val2164Met) rs1567010427
NM_002693.2(POLG):c.1646del (p.Leu549fs) rs1555453538
NM_004572.3(PKP2):c.1677dup (p.Gly560Trpfs) rs1555144459
NM_015189.3(EXOC6B):c.1299T>G (p.Tyr433Ter) rs1064795104
NM_018136.5(ASPM):c.6916_6919del (p.Leu2306fs) rs1064795945
NM_020066.5(FMN2):c.547A>T (p.Ile183Phe) rs757511770
Single allele

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