ClinVar Miner

List of variants in gene PTH1R studied for Chondrodysplasia

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Total variants: 30
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HGVS dbSNP
NM_000316.3(PTH1R):c.*127dup rs142021243
NM_000316.3(PTH1R):c.*7G>A rs199649688
NM_000316.3(PTH1R):c.-166G>A rs886058583
NM_000316.3(PTH1R):c.-37G>A rs201663714
NM_000316.3(PTH1R):c.1050-3dup rs754628395
NM_000316.3(PTH1R):c.1152G>T (p.Val384=) rs763816214
NM_000316.3(PTH1R):c.1255G>A (p.Val419Ile) rs758673796
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.1389T>C (p.Asn463=) rs1138518
NM_000316.3(PTH1R):c.1395+15G>A rs151077141
NM_000316.3(PTH1R):c.1427G>A (p.Arg476His) rs749111054
NM_000316.3(PTH1R):c.144C>T (p.Cys48=) rs568635759
NM_000316.3(PTH1R):c.1586A>G (p.Asn529Ser) rs199740724
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.473C>G (p.Pro158Arg) rs762939698
NM_000316.3(PTH1R):c.543+14T>C rs114449768
NM_000316.3(PTH1R):c.638+7G>A rs886058584
NM_000316.3(PTH1R):c.75+12G>A rs200603325
NM_000316.3(PTH1R):c.75+9C>T rs200710310
NM_000316.3(PTH1R):c.876G>T (p.Leu292=) rs200475872

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