ClinVar Miner

List of variants in gene HCFC1 reported as likely benign for X-linked disease

Included ClinVar conditions (313):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 16
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HGVS dbSNP
NM_005334.3(HCFC1):c.1698G>A (p.Thr566=) rs202099968
NM_005334.3(HCFC1):c.2232G>A (p.Ala744=) rs1557115422
NM_005334.3(HCFC1):c.2566C>T (p.Leu856=) rs1603296223
NM_005334.3(HCFC1):c.2590G>A (p.Ala864Thr) rs190023981
NM_005334.3(HCFC1):c.2817A>T (p.Thr939=) rs782349400
NM_005334.3(HCFC1):c.2872A>G (p.Thr958Ala) rs3027884
NM_005334.3(HCFC1):c.333C>T (p.Tyr111=) rs782099695
NM_005334.3(HCFC1):c.3459T>C (p.Thr1153=) rs1259347673
NM_005334.3(HCFC1):c.4159G>A (p.Val1387Met) rs200164926
NM_005334.3(HCFC1):c.4245G>A (p.Arg1415=) rs782660801
NM_005334.3(HCFC1):c.4260C>G (p.Pro1420=) rs782771916
NM_005334.3(HCFC1):c.4263C>A (p.Pro1421=) rs782566624
NM_005334.3(HCFC1):c.4266T>C (p.Cys1422=) rs781802693
NM_005334.3(HCFC1):c.4773A>G (p.Leu1591=) rs782660181
NM_005334.3(HCFC1):c.5397C>A (p.Pro1799=) rs201452496
NM_005334.3(HCFC1):c.579C>T (p.Tyr193=) rs377138805

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