ClinVar Miner

List of variants reported as likely pathogenic by Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego

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Total variants: 7
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HGVS dbSNP
NM_000129.3(F13A1):c.1352_1353del (p.His451fs) rs1561645895
NM_000207.3(INS):c.26C>G (p.Pro9Arg) rs1564912403
NM_000271.5(NPC1):c.2713C>T (p.Gln905Ter) rs917070773
NM_000383.4(AIRE):c.268T>C (p.Tyr90His) rs1555871902
NM_001127644.2(GABRA1):c.789G>A (p.Met263Ile) rs1060499553
NM_006295.3(VARS):c.1981C>A (p.Pro661Thr) rs1401228799
NM_020732.3(ARID1B):c.3096_3100del (p.Lys1033fs) rs1131692263

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