ClinVar Miner

List of variants reported as likely pathogenic by Pediatric Genomics Discovery Program,Yale University

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Total variants: 10
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HGVS dbSNP
NM_000051.4(ATM):c.8708C>T (p.Pro2903Leu)
NM_001031710.3(KLHL7):c.976C>T (p.Arg326Ter) rs77078070
NM_001376.5(DYNC1H1):c.10973G>A (p.Gly3658Glu) rs1595629181
NM_001376.5(DYNC1H1):c.3347T>C (p.Val1116Ala) rs1595605449
NM_001376.5(DYNC1H1):c.4234C>T (p.His1412Tyr) rs1595609005
NM_001376.5(DYNC1H1):c.4532C>T (p.Pro1511Leu) rs1327664377
NM_020745.4(AARS2):c.1774C>T (p.Arg592Trp) rs138119149
NM_145331.3(MAP3K7):c.122TTG[1] (p.Val42del) rs1582233787
NM_181789.4(GLDN):c.1093C>T (p.Leu365Phe) rs376573993
NM_181789.4(GLDN):c.1178G>A (p.Arg393Lys) rs147954907

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