ClinVar Miner

List of variants reported as uncertain significance for Retinitis pigmentosa 28 by Natera, Inc.

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Total variants: 68
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HGVS dbSNP gnomAD frequency
NM_001201543.2(FAM161A):c.2064T>C (p.Ile688=) rs138464813 0.00145
NM_001201543.2(FAM161A):c.982A>G (p.Ile328Val) rs192680593 0.00034
NM_001201543.2(FAM161A):c.2011A>G (p.Asn671Asp) rs370603613 0.00016
NM_001201543.2(FAM161A):c.1061G>A (p.Arg354Gln) rs369115510 0.00015
NM_001201543.2(FAM161A):c.1270G>A (p.Val424Ile) rs377666612 0.00014
NM_001201543.2(FAM161A):c.494A>G (p.Gln165Arg) rs201088869 0.00013
NM_001201543.2(FAM161A):c.1085G>T (p.Arg362Leu) rs200813667 0.00010
NM_001201543.2(FAM161A):c.1602G>A (p.Lys534=) rs367777806 0.00010
NM_001201543.2(FAM161A):c.1851+4G>A rs375048963 0.00010
NM_001201543.2(FAM161A):c.1044T>C (p.Tyr348=) rs549784796 0.00009
NM_001201543.2(FAM161A):c.1668G>C (p.Gln556His) rs201109013 0.00009
NM_001201543.2(FAM161A):c.916C>T (p.Arg306Trp) rs183615774 0.00009
NM_001201543.2(FAM161A):c.598A>G (p.Asn200Asp) rs372038495 0.00008
NM_001201543.2(FAM161A):c.1219A>G (p.Arg407Gly) rs576715893 0.00007
NM_001201543.2(FAM161A):c.86A>G (p.Gln29Arg) rs763794474 0.00007
NM_001201543.2(FAM161A):c.686G>A (p.Arg229Gln) rs746372822 0.00006
NM_001201543.2(FAM161A):c.704C>A (p.Thr235Lys) rs199759978 0.00006
NM_001201543.2(FAM161A):c.1628G>A (p.Arg543Gln) rs374748539 0.00005
NM_001201543.2(FAM161A):c.1459C>T (p.Arg487Cys) rs780565318 0.00004
NM_001201543.2(FAM161A):c.1759G>A (p.Glu587Lys) rs868226745 0.00004
NM_001201543.2(FAM161A):c.1979C>T (p.Thr660Met) rs372371486 0.00004
NM_001201543.2(FAM161A):c.423-5T>C rs530372842 0.00004
NM_001201543.2(FAM161A):c.1441G>A (p.Glu481Lys) rs727503924 0.00003
NM_001201543.2(FAM161A):c.1787G>A (p.Arg596Gln) rs201467049 0.00003
NM_001201543.2(FAM161A):c.1966A>G (p.Asn656Asp) rs773989386 0.00003
NM_001201543.2(FAM161A):c.1213G>A (p.Gly405Arg) rs544107644 0.00002
NM_001201543.2(FAM161A):c.122C>T (p.Ala41Val) rs768878474 0.00002
NM_001201543.2(FAM161A):c.716C>T (p.Pro239Leu) rs1438804249 0.00002
NM_001201543.2(FAM161A):c.867A>G (p.Ala289=) rs558087162 0.00002
NM_001201543.2(FAM161A):c.972A>T (p.Pro324=) rs769306395 0.00002
NM_001201543.2(FAM161A):c.1012C>T (p.Arg338Trp) rs1382874045 0.00001
NM_001201543.2(FAM161A):c.1018A>G (p.Lys340Glu) rs569307291 0.00001
NM_001201543.2(FAM161A):c.1064T>G (p.Phe355Cys) rs1236579870 0.00001
NM_001201543.2(FAM161A):c.1111G>T (p.Asp371Tyr) rs752075492 0.00001
NM_001201543.2(FAM161A):c.1136A>G (p.Tyr379Cys) rs775782170 0.00001
NM_001201543.2(FAM161A):c.1356A>G (p.Thr452=) rs760376720 0.00001
NM_001201543.2(FAM161A):c.1462T>G (p.Trp488Gly) rs767214705 0.00001
NM_001201543.2(FAM161A):c.1483C>T (p.Arg495Cys) rs759263986 0.00001
NM_001201543.2(FAM161A):c.1576G>A (p.Ala526Thr) rs768632779 0.00001
NM_001201543.2(FAM161A):c.1684C>T (p.Arg562Trp) rs758751186 0.00001
NM_001201543.2(FAM161A):c.1804G>A (p.Glu602Lys) rs769359884 0.00001
NM_001201543.2(FAM161A):c.1821G>C (p.Lys607Asn) rs777678039 0.00001
NM_001201543.2(FAM161A):c.182C>T (p.Ser61Leu) rs374779101 0.00001
NM_001201543.2(FAM161A):c.1907G>A (p.Gly636Glu) rs188276373 0.00001
NM_001201543.2(FAM161A):c.1967A>T (p.Asn656Ile) rs770123645 0.00001
NM_001201543.2(FAM161A):c.1968_1969insTGA (p.Asn657Ter) rs770515598 0.00001
NM_001201543.2(FAM161A):c.252C>T (p.Asn84=) rs561697683 0.00001
NM_001201543.2(FAM161A):c.337T>C (p.Leu113=) rs757443871 0.00001
NM_001201543.2(FAM161A):c.422+3A>T rs373374401 0.00001
NM_001201543.2(FAM161A):c.590A>G (p.Glu197Gly) rs763593903 0.00001
NM_001201543.2(FAM161A):c.698T>C (p.Val233Ala) rs553732379 0.00001
NM_001201543.2(FAM161A):c.775A>G (p.Lys259Glu) rs1227350190 0.00001
NM_001201543.2(FAM161A):c.1097G>T (p.Gly366Val) rs1386308138
NM_001201543.2(FAM161A):c.1238A>C (p.Glu413Ala) rs748095219
NM_001201543.2(FAM161A):c.1401T>G (p.Ile467Met) rs1290409340
NM_001201543.2(FAM161A):c.1484G>A (p.Arg495His) rs201998260
NM_001201543.2(FAM161A):c.148GAG[2] (p.Glu52del) rs528451151
NM_001201543.2(FAM161A):c.149A>G (p.Glu50Gly) rs1673585446
NM_001201543.2(FAM161A):c.1579G>T (p.Val527Leu) rs372121322
NM_001201543.2(FAM161A):c.1688C>G (p.Ala563Gly) rs1672859918
NM_001201543.2(FAM161A):c.1815A>T (p.Leu605Phe) rs372597586
NM_001201543.2(FAM161A):c.1971T>G (p.Asn657Lys) rs867264184
NM_001201543.2(FAM161A):c.2080G>C (p.Asp694His) rs1672373216
NM_001201543.2(FAM161A):c.302A>G (p.Glu101Gly) rs756780634
NM_001201543.2(FAM161A):c.516C>G (p.Ser172=) rs767300885
NM_001201543.2(FAM161A):c.595A>G (p.Ile199Val) rs1672974919
NM_001201543.2(FAM161A):c.721C>A (p.Pro241Thr) rs531709417
NM_001201543.2(FAM161A):c.82G>A (p.Ala28Thr) rs550422472

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