ClinVar Miner

List of variants in gene HCFC1 reported as uncertain significance by GeneDx

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Total variants: 16
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HGVS dbSNP
NM_005334.3(HCFC1):c.1429G>A (p.Ala477Thr) rs782010359
NM_005334.3(HCFC1):c.1472G>T (p.Gly491Val) rs1057524819
NM_005334.3(HCFC1):c.2029-7_2029-6insTAA rs1383257179
NM_005334.3(HCFC1):c.2144C>T (p.Pro715Leu) rs1557115452
NM_005334.3(HCFC1):c.2542A>G (p.Thr848Ala) rs1131691855
NM_005334.3(HCFC1):c.2584G>A (p.Val862Ile) rs1057524502
NM_005334.3(HCFC1):c.2992G>A (p.Asp998Asn) rs1557114563
NM_005334.3(HCFC1):c.3344G>T (p.Gly1115Val) rs370928756
NM_005334.3(HCFC1):c.3892G>A (p.Glu1298Lys) rs781949446
NM_005334.3(HCFC1):c.4475C>G (p.Pro1492Arg) rs782407440
NM_005334.3(HCFC1):c.4619C>T (p.Thr1540Ile) rs781788935
NM_005334.3(HCFC1):c.4910C>T (p.Ala1637Val) rs1002620023
NM_005334.3(HCFC1):c.4969G>A (p.Glu1657Lys) rs868930050
NM_005334.3(HCFC1):c.4983_4988del (p.Val1662_Thr1663del) rs1275942023
NM_005334.3(HCFC1):c.4984G>A (p.Val1662Met) rs782467999
NM_005334.3(HCFC1):c.5997G>T (p.Trp1999Cys) rs1064793145

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