ClinVar Miner

List of variants reported as pathogenic for Dilatation; Cerebral calcification; Interstitial pneumonitis; Cirrhosis of liver

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Total variants: 5
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HGVS dbSNP
NM_005687.5(FARSB):c.1202G>A (p.Arg401Gln) rs1553553086
NM_005687.5(FARSB):c.1381A>C (p.Thr461Pro) rs1396171148
NM_005687.5(FARSB):c.226T>C (p.Cys76Arg) rs1419129874
NM_005687.5(FARSB):c.755T>C (p.Phe252Ser) rs1466642025
NM_005687.5(FARSB):c.784A>G (p.Lys262Glu) rs1553554543

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