ClinVar Miner

List of variants reported as likely pathogenic for White-sutton syndrome

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Total variants: 8
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HGVS dbSNP
NC_000001.11:g.151406200del
NM_015100.4(POGZ):c.1524-3C>G
NM_015100.4(POGZ):c.1727T>C (p.Leu576Pro) rs1057519392
NM_015100.4(POGZ):c.1748A>G (p.His583Arg) rs1131692270
NM_015100.4(POGZ):c.1863C>A (p.Cys621Ter) rs1557878687
NM_015100.4(POGZ):c.2545+1del
NM_015100.4(POGZ):c.2604del (p.Asn869fs) rs1553213126
NM_015100.4(POGZ):c.3206_3207del (p.Ser1068_Tyr1069insTer) rs1553212374

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