ClinVar Miner

List of variants in gene PTH1R reported as uncertain significance for Chondrodysplasia

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Total variants: 8
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HGVS dbSNP
NM_000316.3(PTH1R):c.-166G>A rs886058583
NM_000316.3(PTH1R):c.1050-3dup rs754628395
NM_000316.3(PTH1R):c.1255G>A (p.Val419Ile) rs758673796
NM_000316.3(PTH1R):c.1427G>A (p.Arg476His) rs749111054
NM_000316.3(PTH1R):c.1586A>G (p.Asn529Ser) rs199740724
NM_000316.3(PTH1R):c.473C>G (p.Pro158Arg) rs762939698
NM_000316.3(PTH1R):c.638+7G>A rs886058584
NM_000316.3(PTH1R):c.876G>T (p.Leu292=) rs200475872

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