ClinVar Miner

List of variants in gene combination F12, SLC34A1 reported as benign for bone remodeling disease

Included ClinVar conditions (104):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_003052.5(SLC34A1):c.*202A>C rs6556319 0.03226
NM_003052.5(SLC34A1):c.1635C>T (p.Gly545=) rs7379524 0.02591
NM_003052.5(SLC34A1):c.1702C>T (p.His568Tyr) rs34225933 0.02221
NM_003052.5(SLC34A1):c.*485G>A rs143160780 0.00504
NM_003052.5(SLC34A1):c.*179G>A rs141664220 0.00237
NM_003052.5(SLC34A1):c.*361T>C rs539754545 0.00096
NM_003052.5(SLC34A1):c.1719A>G (p.Leu573=) rs148575220 0.00012
NM_003052.5(SLC34A1):c.1483C>T (p.Arg495Cys) rs199565633 0.00010
NM_000505.4(F12):c.1251-9C>T rs17876032

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