ClinVar Miner

List of variants studied for Bone mineral density quantitative trait locus 18

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Total variants: 16
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HGVS dbSNP gnomAD frequency
NM_000402.4(G6PD):c.466A>G (p.Asn156Asp) rs1050829 0.08672
NM_005032.7(PLS3):c.321T>A (p.Gly107=) rs140121121 0.01269
NM_005032.7(PLS3):c.892-254T>C rs782587498 0.00025
NM_005032.7(PLS3):c.501-1G>A rs781935919 0.00001
GRCh37/hg19 Xq23(chrX:113097589-114931342)
NC_000023.10:g.(113050826_113097589)_(114931342_114941807)del
NM_005032.7(PLS3):c.1471C>T (p.Gln491Ter) rs397518421
NM_005032.7(PLS3):c.216_219del (p.Ser73fs) rs2074664927
NM_005032.7(PLS3):c.234_237+10del rs781875935
NM_005032.7(PLS3):c.235del (p.Tyr79fs) rs397518463
NM_005032.7(PLS3):c.256del (p.Ser86fs) rs1135402748
NM_005032.7(PLS3):c.347G>A (p.Gly116Glu) rs2147533013
NM_005032.7(PLS3):c.359C>T (p.Ser120Phe)
NM_005032.7(PLS3):c.367+2T>C rs2147533064
NM_005032.7(PLS3):c.514del (p.Leu172fs) rs1603241972
NM_005032.7(PLS3):c.583-3C>A rs2147551714

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