ClinVar Miner

List of variants in gene CC2D2A reported as uncertain significance by Invitae

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Total variants: 28
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HGVS dbSNP
NM_001080522.2(CC2D2A):c.1260T>G (p.Cys420Trp)
NM_001080522.2(CC2D2A):c.1266C>G (p.Ser422Arg) rs1229319521
NM_001080522.2(CC2D2A):c.1533A>T (p.Lys511Asn)
NM_001080522.2(CC2D2A):c.1546A>G (p.Met516Val)
NM_001080522.2(CC2D2A):c.1946C>T (p.Thr649Met) rs201884883
NM_001080522.2(CC2D2A):c.2090T>C (p.Val697Ala)
NM_001080522.2(CC2D2A):c.2326G>A (p.Gly776Arg) rs200764366
NM_001080522.2(CC2D2A):c.2437G>A (p.Gly813Arg)
NM_001080522.2(CC2D2A):c.2687A>C (p.Glu896Ala) rs1553838206
NM_001080522.2(CC2D2A):c.3014+4A>C rs748451478
NM_001080522.2(CC2D2A):c.3154G>A (p.Asp1052Asn)
NM_001080522.2(CC2D2A):c.3157A>G (p.Ile1053Val)
NM_001080522.2(CC2D2A):c.3288+3G>A
NM_001080522.2(CC2D2A):c.3503G>A (p.Arg1168His)
NM_001080522.2(CC2D2A):c.3689G>A (p.Arg1230Gln) rs778082588
NM_001080522.2(CC2D2A):c.3751G>A (p.Gly1251Arg)
NM_001080522.2(CC2D2A):c.3779C>T (p.Ser1260Phe) rs759726075
NM_001080522.2(CC2D2A):c.389G>A (p.Arg130His)
NM_001080522.2(CC2D2A):c.4139G>A (p.Gly1380Asp) rs1271963891
NM_001080522.2(CC2D2A):c.4345C>G (p.Pro1449Ala) rs375410796
NM_001080522.2(CC2D2A):c.4437G>C (p.Gln1479His) rs878854168
NM_001080522.2(CC2D2A):c.4541G>A (p.Arg1514His)
NM_001080522.2(CC2D2A):c.4550C>T (p.Thr1517Ile)
NM_001080522.2(CC2D2A):c.4552C>T (p.Arg1518Trp)
NM_001080522.2(CC2D2A):c.4600T>G (p.Leu1534Val) rs778858648
NM_001080522.2(CC2D2A):c.4682dup (p.Phe1562fs) rs1553845917
NM_001080522.2(CC2D2A):c.4852C>T (p.Arg1618Cys) rs201219078
NM_001080522.2(CC2D2A):c.970C>T (p.Arg324Cys) rs376969878

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