ClinVar Miner

List of variants reported as likely pathogenic for Meckel syndrome, type 6; Joubert syndrome 9; COACH syndrome 2; Retinitis pigmentosa 93

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Total variants: 63
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HGVS dbSNP gnomAD frequency
NM_001378615.1(CC2D2A):c.1017+1G>A rs200407856 0.00008
NM_001378615.1(CC2D2A):c.394C>T (p.Arg132Ter) rs377177061 0.00006
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.3850C>T (p.Arg1284Cys) rs779823379 0.00002
NM_001378615.1(CC2D2A):c.2999A>T (p.Glu1000Val) rs773881370 0.00001
NM_001378615.1(CC2D2A):c.3763C>T (p.Arg1255Ter) rs1271825377 0.00001
NM_001378615.1(CC2D2A):c.3989G>A (p.Arg1330Gln) rs763486732 0.00001
NM_001378615.1(CC2D2A):c.712G>T (p.Glu238Ter) rs761213221 0.00001
NM_001080522.2(CC2D2A):c.3597_3600del
NM_001378615.1(CC2D2A):c.1082del (p.Pro361fs)
NM_001378615.1(CC2D2A):c.1140_1141del (p.Leu380_Tyr381insTer)
NM_001378615.1(CC2D2A):c.121C>T (p.Gln41Ter) rs2108970120
NM_001378615.1(CC2D2A):c.1297_1299delinsAA (p.Gln433fs) rs1560166511
NM_001378615.1(CC2D2A):c.1359+1G>A
NM_001378615.1(CC2D2A):c.1359+1G>C
NM_001378615.1(CC2D2A):c.1363C>T (p.Gln455Ter)
NM_001378615.1(CC2D2A):c.1365del (p.Ala456fs)
NM_001378615.1(CC2D2A):c.1705C>T (p.Gln569Ter)
NM_001378615.1(CC2D2A):c.1932dup (p.Pro645fs)
NM_001378615.1(CC2D2A):c.1938G>A (p.Trp646Ter)
NM_001378615.1(CC2D2A):c.1988_1991dup (p.Asp664delinsGluTer)
NM_001378615.1(CC2D2A):c.199del (p.Glu67fs) rs1433294475
NM_001378615.1(CC2D2A):c.2075_2078dup (p.Ser694fs)
NM_001378615.1(CC2D2A):c.2222_2229dup (p.Phe744fs) rs1471484901
NM_001378615.1(CC2D2A):c.2339-1G>A
NM_001378615.1(CC2D2A):c.2440dup (p.Ile814fs)
NM_001378615.1(CC2D2A):c.2444del (p.Pro815fs)
NM_001378615.1(CC2D2A):c.2561G>A (p.Trp854Ter) rs1560180188
NM_001378615.1(CC2D2A):c.2568del (p.Glu857fs)
NM_001378615.1(CC2D2A):c.2581G>A (p.Asp861Asn)
NM_001378615.1(CC2D2A):c.2625+1G>A rs1577372471
NM_001378615.1(CC2D2A):c.2625G>C (p.Ser875=) rs765873247
NM_001378615.1(CC2D2A):c.2683C>T (p.Gln895Ter) rs764719093
NM_001378615.1(CC2D2A):c.2686G>T (p.Glu896Ter)
NM_001378615.1(CC2D2A):c.2774G>C (p.Arg925Pro) rs200707391
NM_001378615.1(CC2D2A):c.278del (p.Thr93fs)
NM_001378615.1(CC2D2A):c.3014+1del
NM_001378615.1(CC2D2A):c.3100del (p.Gln1034fs)
NM_001378615.1(CC2D2A):c.3280del (p.Leu1094fs)
NM_001378615.1(CC2D2A):c.3317_3318del (p.Ser1106fs)
NM_001378615.1(CC2D2A):c.3535G>T (p.Glu1179Ter)
NM_001378615.1(CC2D2A):c.3588del (p.Ala1197fs) rs982352950
NM_001378615.1(CC2D2A):c.3679_3682del (p.Asp1227fs)
NM_001378615.1(CC2D2A):c.3784G>T (p.Glu1262Ter)
NM_001378615.1(CC2D2A):c.391_404delinsC (p.Ser133fs)
NM_001378615.1(CC2D2A):c.3920_3960dup (p.Leu1321Ter)
NM_001378615.1(CC2D2A):c.3976-3C>A rs576298659
NM_001378615.1(CC2D2A):c.4066-2del
NM_001378615.1(CC2D2A):c.4084dup (p.Ala1362fs) rs1313708855
NM_001378615.1(CC2D2A):c.41del (p.Glu14fs)
NM_001378615.1(CC2D2A):c.4315-1G>T
NM_001378615.1(CC2D2A):c.4522del (p.Ile1508fs) rs775292940
NM_001378615.1(CC2D2A):c.4555T>G (p.Trp1519Gly) rs1577406415
NM_001378615.1(CC2D2A):c.4590del (p.Leu1531fs)
NM_001378615.1(CC2D2A):c.4609dup (p.Ser1537fs)
NM_001378615.1(CC2D2A):c.463C>T (p.Gln155Ter)
NM_001378615.1(CC2D2A):c.4645del (p.Glu1549fs)
NM_001378615.1(CC2D2A):c.715del (p.Met239fs)
NM_001378615.1(CC2D2A):c.834del (p.Leu279fs) rs386833765
NM_001378615.1(CC2D2A):c.839del (p.Gln280fs)
NM_001378615.1(CC2D2A):c.977del (p.Asn326fs)
NM_001378615.1(CC2D2A):c.979C>T (p.Gln327Ter)

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