ClinVar Miner

List of variants in gene PTH1R reported by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

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Total variants: 18
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HGVS dbSNP gnomAD frequency
NM_000316.3(PTH1R):c.543+14T>C rs114449768 0.02990
NM_000316.3(PTH1R):c.1636G>A (p.Glu546Lys) rs77048718 0.01765
NM_000316.3(PTH1R):c.1395+15G>A rs151077141 0.00747
NM_000316.3(PTH1R):c.216G>A (p.Ala72=) rs116789130 0.00466
NM_000316.3(PTH1R):c.436C>A (p.Arg146=) rs143863124 0.00428
NM_000316.3(PTH1R):c.128G>A (p.Arg43His) rs141466964 0.00237
NM_000316.3(PTH1R):c.299G>A (p.Gly100Asp) rs41290646 0.00218
NM_000316.3(PTH1R):c.1353+17C>T rs202140438 0.00143
NM_000316.3(PTH1R):c.988+16G>A rs140651831 0.00136
NM_000316.3(PTH1R):c.1305G>A (p.Thr435=) rs142921504 0.00080
NM_000316.3(PTH1R):c.313+4C>T rs200207404 0.00074
NM_000316.3(PTH1R):c.226G>C (p.Gly76Arg) rs148414587 0.00061
NM_000316.3(PTH1R):c.1155C>T (p.Leu385=) rs201360775 0.00012
NM_000316.3(PTH1R):c.1742C>G (p.Pro581Arg) rs146163188 0.00008
NM_000316.3(PTH1R):c.1255G>A (p.Val419Ile) rs758673796 0.00005
NM_000316.3(PTH1R):c.424+17G>A rs957491176 0.00001
NM_000316.3(PTH1R):c.1116+7del
NM_000316.3(PTH1R):c.1320G>A (p.Gln440=) rs1575526100

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