ClinVar Miner

List of variants in gene RIC8A reported by Ambry Genetics

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Gene type:
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Total variants: 56
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HGVS dbSNP gnomAD frequency
NM_001286134.2(RIC8A):c.1214C>T (p.Pro405Leu) rs201112636 0.00027
NM_001286134.2(RIC8A):c.739C>T (p.Leu247Phe) rs144245419 0.00018
NM_001286134.2(RIC8A):c.664A>G (p.Met222Val) rs201711833 0.00015
NM_001286134.2(RIC8A):c.1066-5C>T rs780891201 0.00010
NM_001286134.2(RIC8A):c.800G>A (p.Arg267His) rs375405697 0.00009
NM_001286134.2(RIC8A):c.1190T>C (p.Phe397Ser) rs995257735 0.00004
NM_001286134.2(RIC8A):c.1511G>A (p.Arg504Gln) rs141562542 0.00004
NM_001286134.2(RIC8A):c.649G>A (p.Glu217Lys) rs372957312 0.00004
NM_001286134.2(RIC8A):c.1559A>G (p.Gln520Arg) rs755363663 0.00002
NM_001286134.2(RIC8A):c.381C>G (p.Ser127Arg) rs753331678 0.00002
NM_001286134.2(RIC8A):c.634C>A (p.Leu212Ile) rs202016084 0.00002
NM_001286134.2(RIC8A):c.1384G>A (p.Glu462Lys) rs150182856 0.00001
NM_001286134.2(RIC8A):c.1529T>C (p.Leu510Pro) rs1334036416 0.00001
NM_001286134.2(RIC8A):c.1541T>C (p.Met514Thr) rs558315556 0.00001
NM_001286134.2(RIC8A):c.368A>G (p.Asn123Ser) rs1453865856 0.00001
NM_001286134.2(RIC8A):c.391G>C (p.Ala131Pro) rs1424202042 0.00001
NM_001286134.2(RIC8A):c.49G>A (p.Val17Met) rs751649420 0.00001
NM_001286134.2(RIC8A):c.718G>A (p.Val240Met) rs765509716 0.00001
NM_001286134.2(RIC8A):c.1001T>G (p.Val334Gly) rs148837685
NM_001286134.2(RIC8A):c.1028G>A (p.Arg343Gln)
NM_001286134.2(RIC8A):c.1030A>C (p.Met344Leu) rs1418820665
NM_001286134.2(RIC8A):c.1138C>T (p.Leu380Phe)
NM_001286134.2(RIC8A):c.1217G>A (p.Arg406Gln)
NM_001286134.2(RIC8A):c.128G>A (p.Arg43Gln)
NM_001286134.2(RIC8A):c.1294G>A (p.Glu432Lys)
NM_001286134.2(RIC8A):c.1306T>C (p.Ser436Pro)
NM_001286134.2(RIC8A):c.1321A>G (p.Thr441Ala) rs2538891297
NM_001286134.2(RIC8A):c.1346C>G (p.Ala449Gly) rs2538891344
NM_001286134.2(RIC8A):c.1378G>C (p.Val460Leu)
NM_001286134.2(RIC8A):c.1468C>T (p.Leu490Phe)
NM_001286134.2(RIC8A):c.1526C>T (p.Ser509Phe)
NM_001286134.2(RIC8A):c.1546G>A (p.Glu516Lys) rs201428218
NM_001286134.2(RIC8A):c.1546G>C (p.Glu516Gln) rs201428218
NM_001286134.2(RIC8A):c.1577C>T (p.Pro526Leu) rs777293328
NM_001286134.2(RIC8A):c.175C>T (p.Pro59Ser)
NM_001286134.2(RIC8A):c.332T>C (p.Met111Thr)
NM_001286134.2(RIC8A):c.334G>A (p.Asp112Asn)
NM_001286134.2(RIC8A):c.398T>G (p.Met133Arg) rs2538883125
NM_001286134.2(RIC8A):c.442G>A (p.Val148Met)
NM_001286134.2(RIC8A):c.460A>G (p.Arg154Gly)
NM_001286134.2(RIC8A):c.472C>G (p.His158Asp)
NM_001286134.2(RIC8A):c.62C>T (p.Ala21Val) rs375013736
NM_001286134.2(RIC8A):c.712G>A (p.Gly238Arg) rs370342895
NM_001286134.2(RIC8A):c.712G>C (p.Gly238Arg)
NM_001286134.2(RIC8A):c.717G>T (p.Glu239Asp)
NM_001286134.2(RIC8A):c.750C>G (p.His250Gln) rs371083990
NM_001286134.2(RIC8A):c.773G>C (p.Cys258Ser)
NM_001286134.2(RIC8A):c.784G>A (p.Ala262Thr) rs371604801
NM_001286134.2(RIC8A):c.784G>T (p.Ala262Ser)
NM_001286134.2(RIC8A):c.785C>T (p.Ala262Val)
NM_001286134.2(RIC8A):c.787A>G (p.Thr263Ala)
NM_001286134.2(RIC8A):c.830A>G (p.Asn277Ser)
NM_001286134.2(RIC8A):c.85C>A (p.His29Asn) rs2538882156
NM_001286134.2(RIC8A):c.860T>C (p.Leu287Pro)
NM_001286134.2(RIC8A):c.875C>T (p.Thr292Ile)
NM_001286134.2(RIC8A):c.918T>A (p.Asn306Lys)

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