ClinVar Miner

List of variants studied for Dyskeratosis congenita, autosomal recessive 6; Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4

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Total variants: 91
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HGVS dbSNP
NC_000016.10:g.(?_14436697)_(14609143_?)dup
NM_002582.4(PARN):c.1031C>T (p.Ala344Val)
NM_002582.4(PARN):c.104G>C (p.Ser35Thr)
NM_002582.4(PARN):c.1090G>A (p.Glu364Lys)
NM_002582.4(PARN):c.1102A>T (p.Ser368Cys) rs138984302
NM_002582.4(PARN):c.1124_1133del (p.Gln375fs)
NM_002582.4(PARN):c.1131C>T (p.His377=) rs200644588
NM_002582.4(PARN):c.1132G>A (p.Glu378Lys)
NM_002582.4(PARN):c.1171A>G (p.Ile391Val)
NM_002582.4(PARN):c.1192+4C>T rs185546844
NM_002582.4(PARN):c.1193-8T>G rs372257813
NM_002582.4(PARN):c.1219C>G (p.His407Asp) rs1596738260
NM_002582.4(PARN):c.1263-8T>G rs182460499
NM_002582.4(PARN):c.1297C>A (p.Leu433Ile)
NM_002582.4(PARN):c.1297C>G (p.Leu433Val) rs201782700
NM_002582.4(PARN):c.1351A>G (p.Thr451Ala) rs984383174
NM_002582.4(PARN):c.1358C>A (p.Pro453His)
NM_002582.4(PARN):c.1377C>T (p.Ser459=) rs530411927
NM_002582.4(PARN):c.1381C>G (p.Leu461Val)
NM_002582.4(PARN):c.1383T>C (p.Leu461=) rs143472178
NM_002582.4(PARN):c.1405+3A>G rs368839652
NM_002582.4(PARN):c.1405+8G>A rs373527624
NM_002582.4(PARN):c.1406-9C>T rs530099133
NM_002582.4(PARN):c.1413T>C (p.Ile471=) rs371869778
NM_002582.4(PARN):c.1434C>T (p.Asp478=) rs368012289
NM_002582.4(PARN):c.1458C>G (p.Ser486Arg)
NM_002582.4(PARN):c.1464C>T (p.Pro488=) rs61748886
NM_002582.4(PARN):c.1493G>A (p.Ser498Asn) rs200471459
NM_002582.4(PARN):c.1501G>T (p.Ala501Ser) rs199651788
NM_002582.4(PARN):c.1572A>G (p.Arg524=) rs370717086
NM_002582.4(PARN):c.1613G>C (p.Arg538Pro) rs377199187
NM_002582.4(PARN):c.1635C>G (p.Pro545=) rs372937126
NM_002582.4(PARN):c.1650T>A (p.Asn550Lys) rs1368350204
NM_002582.4(PARN):c.1661G>A (p.Arg554His) rs372489171
NM_002582.4(PARN):c.1670+1G>T
NM_002582.4(PARN):c.1690G>A (p.Val564Ile) rs35722504
NM_002582.4(PARN):c.1691T>C (p.Val564Ala) rs200433771
NM_002582.4(PARN):c.1697A>G (p.Lys566Arg) rs1567284498
NM_002582.4(PARN):c.1741G>A (p.Gly581Arg) rs75007073
NM_002582.4(PARN):c.1761C>T (p.Ser587=) rs148052946
NM_002582.4(PARN):c.1762G>T (p.Asp588Tyr)
NM_002582.4(PARN):c.178-9C>A
NM_002582.4(PARN):c.1782C>T (p.Thr594=) rs187555579
NM_002582.4(PARN):c.1785T>G (p.Asp595Glu) rs200434143
NM_002582.4(PARN):c.1789T>C (p.Cys597Arg) rs1596433239
NM_002582.4(PARN):c.1842G>A (p.Met614Ile) rs913617123
NM_002582.4(PARN):c.1843A>G (p.Lys615Glu) rs368440052
NM_002582.4(PARN):c.1843AAG[3] (p.Lys616dup)
NM_002582.4(PARN):c.1865-9T>C rs768874362
NM_002582.4(PARN):c.1874C>T (p.Ser625Leu) rs201963032
NM_002582.4(PARN):c.1891A>G (p.Thr631Ala)
NM_002582.4(PARN):c.19+4C>T
NM_002582.4(PARN):c.19A>C (p.Asn7His)
NM_002582.4(PARN):c.244_245+6dup
NM_002582.4(PARN):c.271T>A (p.Tyr91Asn) rs764315291
NM_002582.4(PARN):c.272A>G (p.Tyr91Cys) rs201765587
NM_002582.4(PARN):c.299C>A (p.Ser100Tyr)
NM_002582.4(PARN):c.319G>A (p.Val107Ile)
NM_002582.4(PARN):c.34C>T (p.Leu12Phe) rs777848795
NM_002582.4(PARN):c.350C>G (p.Ala117Gly)
NM_002582.4(PARN):c.383G>A (p.Arg128Gln)
NM_002582.4(PARN):c.389-8G>A rs200322751
NM_002582.4(PARN):c.407A>T (p.Gln136Leu) rs374762200
NM_002582.4(PARN):c.434A>C (p.Gln145Pro)
NM_002582.4(PARN):c.449G>A (p.Arg150His) rs755153974
NM_002582.4(PARN):c.466G>T (p.Ala156Ser) rs200103366
NM_002582.4(PARN):c.563dup (p.Glu189fs) rs878853260
NM_002582.4(PARN):c.573A>T (p.Leu191Phe)
NM_002582.4(PARN):c.619G>A (p.Gly207Arg)
NM_002582.4(PARN):c.620+3_620+4delinsAG
NM_002582.4(PARN):c.655T>G (p.Trp219Gly)
NM_002582.4(PARN):c.657G>A (p.Trp219Ter)
NM_002582.4(PARN):c.665C>G (p.Pro222Arg)
NM_002582.4(PARN):c.665C>T (p.Pro222Leu)
NM_002582.4(PARN):c.692A>G (p.Glu231Gly) rs757910862
NM_002582.4(PARN):c.702+5C>T rs368739970
NM_002582.4(PARN):c.703-6T>C rs370304152
NM_002582.4(PARN):c.709C>T (p.Arg237Ter)
NM_002582.4(PARN):c.710G>A (p.Arg237Gln)
NM_002582.4(PARN):c.713dup (p.Tyr238Ter)
NM_002582.4(PARN):c.729A>C (p.Lys243Asn)
NM_002582.4(PARN):c.7A>G (p.Ile3Val) rs1567474981
NM_002582.4(PARN):c.825C>T (p.His275=) rs374114285
NM_002582.4(PARN):c.840+6T>C rs59687658
NM_002582.4(PARN):c.840+6del rs531994703
NM_002582.4(PARN):c.853A>G (p.Ile285Val) rs376031010
NM_002582.4(PARN):c.877G>A (p.Val293Ile) rs758441481
NM_002582.4(PARN):c.902A>G (p.Tyr301Cys)
NM_002582.4(PARN):c.917C>T (p.Ala306Val)
NM_002582.4(PARN):c.919G>A (p.Asp307Asn)
NM_002582.4(PARN):c.924A>C (p.Leu308Phe) rs1336426171

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