ClinVar Miner

List of variants in gene HCFC1 reported as uncertain significance for X-linked disease

Included ClinVar conditions (313):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 17
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NM_005334.3(HCFC1):c.1398G>A (p.Thr466=)
NM_005334.3(HCFC1):c.1427C>T (p.Thr476Ile) rs782364666
NM_005334.3(HCFC1):c.1429G>A (p.Ala477Thr) rs782010359
NM_005334.3(HCFC1):c.2668G>A (p.Val890Ile)
NM_005334.3(HCFC1):c.3409C>T (p.Arg1137Trp)
NM_005334.3(HCFC1):c.3495G>C (p.Gln1165His)
NM_005334.3(HCFC1):c.3563C>T (p.Ser1188Leu) rs782473277
NM_005334.3(HCFC1):c.3695G>A (p.Arg1232His) rs201578135
NM_005334.3(HCFC1):c.4109C>T (p.Ser1370Leu) rs1557113656
NM_005334.3(HCFC1):c.4153A>G (p.Arg1385Gly) rs781783048
NM_005334.3(HCFC1):c.4242G>C (p.Gln1414His) rs1004412459
NM_005334.3(HCFC1):c.4315A>C (p.Asn1439His) rs782138046
NM_005334.3(HCFC1):c.4334A>G (p.Asp1445Gly)
NM_005334.3(HCFC1):c.4576G>A (p.Ala1526Thr) rs782652831
NM_005334.3(HCFC1):c.4815G>A (p.Thr1605=) rs782313635
NM_005334.3(HCFC1):c.5276A>C (p.Asn1759Thr)
NM_005334.3(HCFC1):c.5391_5393GCC[1] (p.Pro1801del) rs782769309

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