List of variants in gene HCFC1 reported as uncertain significance by CeGaT Center for Human Genetics Tuebingen

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 16

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HGVS	dbSNP	gnomAD frequency
NM_005334.3(HCFC1):c.3596G>A (p.Arg1199Gln)	rs1273500868	0.00011
NM_005334.3(HCFC1):c.3495G>C (p.Gln1165His)	rs373327413	0.00008
NM_005334.3(HCFC1):c.6074C>G (p.Ser2025Cys)	rs1156301874	0.00001
NM_005334.3(HCFC1):c.1102G>T (p.Ala368Ser)	rs1557116375
NM_005334.3(HCFC1):c.1616G>A (p.Ser539Asn)
NM_005334.3(HCFC1):c.2555G>T (p.Gly852Val)	rs2065380619
NM_005334.3(HCFC1):c.3518C>A (p.Ala1173Glu)	rs782596644
NM_005334.3(HCFC1):c.3976G>A (p.Glu1326Lys)
NM_005334.3(HCFC1):c.4179GGC[4] (p.Ala1396_Pro1397insAla)
NM_005334.3(HCFC1):c.4639G>A (p.Val1547Met)
NM_005334.3(HCFC1):c.4735C>G (p.Gln1579Glu)	rs1603294733
NM_005334.3(HCFC1):c.4983_4988del (p.Val1662_Thr1663del)	rs1275942023
NM_005334.3(HCFC1):c.5087AGC[5] (p.Gln1699dup)	rs782149930
NM_005334.3(HCFC1):c.5308G>A (p.Ala1770Thr)	rs2148559916
NM_005334.3(HCFC1):c.6089C>G (p.Ser2030Cys)	rs1344145002
NM_005334.3(HCFC1):c.979G>A (p.Ala327Thr)	rs782659828

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