ClinVar Miner

List of variants studied for X-linked osteoporosis with fractures

Included ClinVar conditions (1):
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Total variants: 8
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HGVS dbSNP
GRCh37/hg19 Xq23(chrX:113097589-114931342)
NC_000023.10:g.(113050826_113097589)_(114931342_114941807)del
NM_000402.4(G6PD):c.466A>G (p.Asn156Asp) rs1050829
NM_005032.7(PLS3):c.1471C>T (p.Gln491Ter) rs397518421
NM_005032.7(PLS3):c.235del (p.Tyr79fs) rs397518463
NM_005032.7(PLS3):c.256del (p.Ser86fs) rs1135402748
NM_005032.7(PLS3):c.321T>A (p.Gly107=) rs140121121
NM_005032.7(PLS3):c.514del (p.Leu172fs)

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