ClinVar Miner

List of variants reported as benign for abnormal mineralization disorder by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (29):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_054027.6(ANKH):c.688-14G>A rs187770990 0.00755
NM_024529.5(CDC73):c.308-16C>A rs201766013 0.00252
NM_006208.3(ENPP1):c.313+11_313+15del rs771304080 0.00163
NM_020638.3(FGF23):c.211+19T>C rs141828684 0.00162
NM_001127898.4(CLCN5):c.315+12G>A rs781796383 0.00009
NM_000444.6(PHEX):c.1516G>A (p.Val506Ile)
NM_000785.4(CYP27B1):c.386+14G>T rs373607899
NM_001177316.2(SLC34A3):c.1210+17G>A rs202071967
NM_004407.4(DMP1):c.844C>A (p.Leu282Ile) rs141979823
NM_020638.3(FGF23):c.555G>C (p.Ser185=) rs115283398

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