ClinVar Miner

List of variants reported as uncertain significance for ciliopathy by Centre for Mendelian Genomics, University Medical Centre Ljubljana

Included ClinVar conditions (273):
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ClinVar version:
Total variants: 31
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HGVS dbSNP gnomAD frequency
NM_001128178.3(NPHP1):c.232T>C (p.Tyr78His) rs140446520 0.00127
NM_206933.4(USH2A):c.1966G>A (p.Asp656Asn) rs146824138 0.00071
NM_001378615.1(CC2D2A):c.1041C>T (p.Asp347=) rs371086728 0.00056
NM_015272.5(RPGRIP1L):c.171G>T (p.Leu57Phe) rs146925098 0.00031
NM_015272.5(RPGRIP1L):c.628A>G (p.Asn210Asp) rs146584570 0.00024
NM_024649.5(BBS1):c.478C>T (p.Arg160Trp) rs199633103 0.00006
NM_001378615.1(CC2D2A):c.3065G>A (p.Arg1022Gln) rs770896540 0.00004
NM_016343.4(CENPF):c.8818G>C (p.Glu2940Gln) rs535739714 0.00004
NM_001369.3(DNAH5):c.11583C>A (p.Ser3861Arg) rs576096758 0.00003
NM_001372.4(DNAH9):c.11666C>G (p.Ser3889Ter) rs1355800948 0.00003
NM_025114.4(CEP290):c.1669C>T (p.Arg557Cys) rs561018129 0.00003
NM_025114.4(CEP290):c.514A>C (p.Lys172Gln) rs765944337 0.00003
NM_019892.6(INPP5E):c.1402C>T (p.Arg468Cys) rs375909217 0.00002
NM_019892.6(INPP5E):c.1666-12A>G rs372545147 0.00002
NM_001199397.3(NEK1):c.3295G>C (p.Asp1099His) rs765205496 0.00001
NM_001369.3(DNAH5):c.3013A>T (p.Asn1005Tyr) rs770975422 0.00001
NM_001378615.1(CC2D2A):c.2999A>T (p.Glu1000Val) rs773881370 0.00001
NM_017950.4(CCDC40):c.1807G>A (p.Glu603Lys) rs948532763 0.00001
NM_153240.5(NPHP3):c.1275+3A>T rs370712498 0.00001
NM_198525.3(KIF7):c.2978G>A (p.Arg993Gln) rs746107537 0.00001
NM_198525.3(KIF7):c.3326C>T (p.Thr1109Met) rs189960711 0.00001
NM_001199397.3(NEK1):c.1496A>T (p.Asp499Val) rs1762076570
NM_001277115.2(DNAH11):c.5094+4A>G rs769984539
NM_001369.3(DNAH5):c.13369T>G (p.Trp4457Gly) rs1427121789
NM_001372.4(DNAH9):c.308dup (p.Leu104fs) rs769795916
NM_001377.3(DYNC2H1):c.6310C>T (p.Pro2104Ser) rs1861751321
NM_017950.4(CCDC40):c.2832+306G>T rs1435853783
NM_019892.6(INPP5E):c.1312G>C (p.Asp438His) rs1835733198
NM_025114.4(CEP290):c.3541G>C (p.Glu1181Gln) rs1466311097
NM_025114.4(CEP290):c.6842A>T (p.Glu2281Val) rs2033943524
NM_206933.4(USH2A):c.14027A>G (p.Gln4676Arg) rs397517987

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