ClinVar Miner

List of variants in gene CC2D2A reported as likely pathogenic for not provided

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Total variants: 33
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HGVS dbSNP gnomAD frequency
NM_001378615.1(CC2D2A):c.4667A>T (p.Asp1556Val) rs201502401 0.00020
NM_001378615.1(CC2D2A):c.1017+1G>A rs200407856 0.00008
NM_001378615.1(CC2D2A):c.3341C>T (p.Thr1114Met) rs386833752 0.00003
NM_001378615.1(CC2D2A):c.4333C>T (p.Arg1445Ter) rs529437224 0.00003
NM_001378615.1(CC2D2A):c.100C>T (p.Arg34Ter) rs896947430 0.00002
NM_001378615.1(CC2D2A):c.3325C>T (p.Arg1109Ter) rs760676442 0.00002
NM_001378615.1(CC2D2A):c.3544T>C (p.Trp1182Arg) rs386833755 0.00002
NM_001378615.1(CC2D2A):c.1692_1699dup (p.Tyr567fs) rs1487693460 0.00001
NM_001378615.1(CC2D2A):c.3458T>C (p.Ile1153Thr) rs1410133502 0.00001
NM_001378615.1(CC2D2A):c.4384T>C (p.Trp1462Arg) rs368720062 0.00001
NM_001378615.1(CC2D2A):c.4550C>G (p.Thr1517Ser) rs780673487 0.00001
NM_001378615.1(CC2D2A):c.4582C>T (p.Arg1528Cys) rs118204052 0.00001
NM_001378615.1(CC2D2A):c.4697T>C (p.Met1566Thr) rs762773515 0.00001
NM_001378615.1(CC2D2A):c.1149+1G>A rs1553827236
NM_001378615.1(CC2D2A):c.1150-1G>C rs2109023958
NM_001378615.1(CC2D2A):c.1360-1G>T
NM_001378615.1(CC2D2A):c.1466+2T>C rs770219362
NM_001378615.1(CC2D2A):c.1644T>G (p.Tyr548Ter)
NM_001378615.1(CC2D2A):c.2302C>T (p.Gln768Ter)
NM_001378615.1(CC2D2A):c.2683C>T (p.Gln895Ter) rs764719093
NM_001378615.1(CC2D2A):c.2993A>T (p.Glu998Val) rs2109061743
NM_001378615.1(CC2D2A):c.3364C>T (p.Pro1122Ser) rs118204051
NM_001378615.1(CC2D2A):c.337-2A>C
NM_001378615.1(CC2D2A):c.3679_3682del (p.Asp1227fs)
NM_001378615.1(CC2D2A):c.4315-6_4315-3del rs926806639
NM_001378615.1(CC2D2A):c.4396_4400del (p.Phe1466fs) rs1176927796
NM_001378615.1(CC2D2A):c.4437+1G>A rs786205568
NM_001378615.1(CC2D2A):c.4465_4468del (p.Asp1489fs) rs797045437
NM_001378615.1(CC2D2A):c.4531T>C (p.Trp1511Arg) rs1721483506
NM_001378615.1(CC2D2A):c.4726G>C (p.Asp1576His) rs1064794798
NM_001378615.1(CC2D2A):c.4814dup (p.Asn1605fs)
NM_001378615.1(CC2D2A):c.62delinsTC (p.Asp21fs) rs1577309042
NM_001378615.1(CC2D2A):c.770T>G (p.Leu257Ter)

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