List of variants in gene CC2D2A reported by Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 19

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HGVS	dbSNP	gnomAD frequency
NM_001378615.1(CC2D2A):c.2326G>A (p.Gly776Arg)	rs200764366	0.00066
NM_001378615.1(CC2D2A):c.1041C>T (p.Asp347=)	rs371086728	0.00056
NM_001378615.1(CC2D2A):c.4809C>G (p.Pro1603=)	rs367841700	0.00023
NM_001378615.1(CC2D2A):c.2039G>A (p.Arg680His)	rs200236654	0.00021
NM_001378615.1(CC2D2A):c.4667A>T (p.Asp1556Val)	rs201502401	0.00020
NM_001378615.1(CC2D2A):c.2437G>A (p.Gly813Arg)	rs375167917	0.00009
NM_001378615.1(CC2D2A):c.3083G>A (p.Arg1028Gln)	rs775439922	0.00003
NM_001378615.1(CC2D2A):c.566A>G (p.Glu189Gly)	rs762024789	0.00001
NM_001378615.1(CC2D2A):c.1017+3A>T
NM_001378615.1(CC2D2A):c.123+5G>C
NM_001378615.1(CC2D2A):c.1738C>T (p.Gln580Ter)
NM_001378615.1(CC2D2A):c.2714T>A (p.Leu905Ter)
NM_001378615.1(CC2D2A):c.2728C>T (p.Arg910Ter)	rs781206278
NM_001378615.1(CC2D2A):c.3084del (p.Lys1029fs)	rs386833749
NM_001378615.1(CC2D2A):c.3182+1G>T
NM_001378615.1(CC2D2A):c.3841T>C (p.Phe1281Leu)	rs1560192615
NM_001378615.1(CC2D2A):c.3976-3C>A	rs576298659
NM_001378615.1(CC2D2A):c.4465G>C (p.Asp1489His)	rs1338289178
NM_001378615.1(CC2D2A):c.934G>A (p.Glu312Lys)	rs1716841949

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