ClinVar Miner

List of variants in gene PTH1R reported as likely benign for Chondrodysplasia

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Total variants: 20
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HGVS dbSNP
NM_000316.3(PTH1R):c.*7G>A rs199649688
NM_000316.3(PTH1R):c.-37G>A rs201663714
NM_000316.3(PTH1R):c.1152G>T (p.Val384=) rs763816214
NM_000316.3(PTH1R):c.128G>A (p.Arg43His) rs141466964
NM_000316.3(PTH1R):c.1305G>A (p.Thr435=) rs142921504
NM_000316.3(PTH1R):c.1395+15G>A rs151077141
NM_000316.3(PTH1R):c.144C>T (p.Cys48=) rs568635759
NM_000316.3(PTH1R):c.1636G>A (p.Glu546Lys) rs77048718
NM_000316.3(PTH1R):c.1644C>T (p.Leu548=) rs138646765
NM_000316.3(PTH1R):c.216G>A (p.Ala72=) rs116789130
NM_000316.3(PTH1R):c.226G>C (p.Gly76Arg) rs148414587
NM_000316.3(PTH1R):c.299G>A (p.Gly100Asp) rs41290646
NM_000316.3(PTH1R):c.313+4C>T rs200207404
NM_000316.3(PTH1R):c.357G>A (p.Pro119=) rs143692596
NM_000316.3(PTH1R):c.375G>A (p.Glu125=) rs138339848
NM_000316.3(PTH1R):c.436C>A (p.Arg146=) rs143863124
NM_000316.3(PTH1R):c.448C>T (p.Arg150Cys) rs121434601
NM_000316.3(PTH1R):c.543+14T>C rs114449768
NM_000316.3(PTH1R):c.75+12G>A rs200603325
NM_000316.3(PTH1R):c.75+9C>T rs200710310

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