ClinVar Miner

List of variants reported as uncertain significance for chromosomal disorder by Revvity Omics, Revvity

Included ClinVar conditions (195):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 136
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HGVS dbSNP gnomAD frequency
NM_019066.5(MAGEL2):c.1423G>T (p.Ala475Ser) rs760039339 0.00040
NM_022455.5(NSD1):c.3215G>A (p.Arg1072Gln) rs28932180 0.00036
NM_000057.4(BLM):c.3625T>A (p.Ser1209Thr) rs1801256 0.00031
NM_030665.4(RAI1):c.109G>A (p.Gly37Arg) rs201393598 0.00024
NM_019066.5(MAGEL2):c.539T>C (p.Val180Ala) rs58729661 0.00014
NM_000057.4(BLM):c.3427G>A (p.Glu1143Lys) rs140387675 0.00008
NM_000057.4(BLM):c.664G>A (p.Glu222Lys) rs774075577 0.00008
NM_004715.5(CTDP1):c.431C>T (p.Pro144Leu) rs758618193 0.00006
NM_001378120.1(MBD5):c.4519A>G (p.Met1507Val) rs572436251 0.00005
NM_001378120.1(MBD5):c.1489A>G (p.Ile497Val) rs771672174 0.00004
NM_001378120.1(MBD5):c.2711G>A (p.Ser904Asn) rs398124344 0.00004
NM_001378120.1(MBD5):c.4505A>G (p.Tyr1502Cys) rs773873513 0.00004
NM_002397.5(MEF2C):c.480T>C (p.Pro160=) rs200518765 0.00004
NM_030665.4(RAI1):c.2200G>A (p.Ala734Thr) rs780371904 0.00004
NM_000057.4(BLM):c.403G>T (p.Ala135Ser) rs373832397 0.00003
NM_001145358.2(SIN3A):c.2783G>A (p.Arg928Gln) rs367989965 0.00003
NM_001378120.1(MBD5):c.1198G>A (p.Val400Ile) rs377568191 0.00003
NM_001378120.1(MBD5):c.2569G>A (p.Ala857Thr) rs769330358 0.00003
NM_001378120.1(MBD5):c.3680C>T (p.Ala1227Val) rs773522192 0.00003
NM_001378120.1(MBD5):c.884C>G (p.Thr295Ser) rs368339420 0.00003
NM_001378120.1(MBD5):c.961A>G (p.Met321Val) rs369869865 0.00003
NM_016628.5(WAC):c.140G>A (p.Arg47Gln) rs374821442 0.00002
NM_030665.4(RAI1):c.3146C>T (p.Ser1049Leu) rs755152385 0.00002
NM_000057.4(BLM):c.572G>T (p.Arg191Ile) rs569086568 0.00001
NM_001145358.2(SIN3A):c.286G>A (p.Gly96Ser) rs761104318 0.00001
NM_001172509.2(SATB2):c.1397C>T (p.Ser466Leu) rs780366664 0.00001
NM_001172509.2(SATB2):c.1704G>A (p.Met568Ile) rs1042085577 0.00001
NM_001378120.1(MBD5):c.1259G>A (p.Gly420Glu) rs142661175 0.00001
NM_001378120.1(MBD5):c.1537G>A (p.Asp513Asn) rs1465733702 0.00001
NM_001378120.1(MBD5):c.1663C>A (p.Pro555Thr) rs1422887607 0.00001
NM_001378120.1(MBD5):c.19T>A (p.Cys7Ser) rs766104877 0.00001
NM_006940.6(SOX5):c.179A>G (p.Asn60Ser) rs764767423 0.00001
NM_022455.5(NSD1):c.4150C>T (p.Arg1384Trp) rs1765619618 0.00001
NM_022455.5(NSD1):c.670T>C (p.Ser224Pro) rs770174512 0.00001
NM_030665.4(RAI1):c.3401C>T (p.Pro1134Leu) rs2032247780 0.00001
NM_000057.4(BLM):c.1088C>T (p.Ala363Val) rs1567040460
NM_000057.4(BLM):c.2583T>C (p.Asn861=) rs1896651230
NM_000057.4(BLM):c.2584C>A (p.Leu862Met)
NM_000057.4(BLM):c.3730G>A (p.Val1244Ile) rs1249106324
NM_000057.4(BLM):c.598A>G (p.Thr200Ala) rs1895627174
NM_001002295.2(GATA3):c.473C>T (p.Pro158Leu)
NM_001002295.2(GATA3):c.827G>T (p.Arg276Leu)
NM_001145358.2(SIN3A):c.1250C>T (p.Pro417Leu)
NM_001145358.2(SIN3A):c.2197G>C (p.Gly733Arg) rs1567338837
NM_001145358.2(SIN3A):c.2310T>C (p.Gly770=)
NM_001145358.2(SIN3A):c.2498A>T (p.Asp833Val)
NM_001145358.2(SIN3A):c.3200T>C (p.Met1067Thr)
NM_001145358.2(SIN3A):c.3620A>G (p.His1207Arg)
NM_001145358.2(SIN3A):c.3653C>G (p.Thr1218Ser)
NM_001145358.2(SIN3A):c.619C>G (p.Gln207Glu)
NM_001172509.2(SATB2):c.158A>G (p.Lys53Arg)
NM_001172509.2(SATB2):c.555G>T (p.Glu185Asp)
NM_001172509.2(SATB2):c.734A>G (p.Tyr245Cys)
NM_001172509.2(SATB2):c.803A>G (p.Asn268Ser) rs375141410
NM_001256447.2(BCAP31):c.477+8del
NM_001256447.2(BCAP31):c.709G>C (p.Val237Leu)
NM_001378120.1(MBD5):c.2109G>C (p.Gln703His) rs767521281
NM_001378120.1(MBD5):c.2305G>A (p.Val769Ile)
NM_001378120.1(MBD5):c.2414A>T (p.Asn805Ile)
NM_001378120.1(MBD5):c.3718A>G (p.Asn1240Asp)
NM_001378120.1(MBD5):c.4160A>G (p.His1387Arg)
NM_001378120.1(MBD5):c.4387A>T (p.Arg1463Trp)
NM_001378120.1(MBD5):c.4439T>C (p.Ile1480Thr)
NM_002397.5(MEF2C):c.1207A>T (p.Thr403Ser)
NM_002397.5(MEF2C):c.43C>G (p.Arg15Gly)
NM_002397.5(MEF2C):c.724C>G (p.Pro242Ala)
NM_004654.4(USP9Y):c.3835C>G (p.Leu1279Val)
NM_004654.4(USP9Y):c.5924C>T (p.Thr1975Ile)
NM_004715.5(CTDP1):c.1023A>G (p.Arg341=)
NM_004715.5(CTDP1):c.398A>G (p.Gln133Arg)
NM_006940.6(SOX5):c.1280G>A (p.Gly427Asp)
NM_006940.6(SOX5):c.1303G>T (p.Ala435Ser)
NM_006940.6(SOX5):c.2149G>A (p.Gly717Arg)
NM_006940.6(SOX5):c.2283A>C (p.Gln761His)
NM_006940.6(SOX5):c.576C>T (p.Pro192=)
NM_006940.6(SOX5):c.693T>G (p.Ile231Met)
NM_006940.6(SOX5):c.913A>G (p.Ser305Gly)
NM_014679.5(CEP57):c.142A>T (p.Ser48Cys)
NM_016111.4(TELO2):c.925C>T (p.Arg309Trp)
NM_016628.5(WAC):c.1012A>G (p.Thr338Ala)
NM_016628.5(WAC):c.1295C>T (p.Pro432Leu)
NM_016628.5(WAC):c.1549C>T (p.Arg517Cys)
NM_016628.5(WAC):c.1558A>G (p.Ser520Gly)
NM_016628.5(WAC):c.1865G>A (p.Arg622Gln)
NM_016628.5(WAC):c.665C>A (p.Ser222Tyr)
NM_019066.5(MAGEL2):c.1112C>T (p.Thr371Ile)
NM_019066.5(MAGEL2):c.1171A>T (p.Thr391Ser)
NM_019066.5(MAGEL2):c.1248C>T (p.Ile416=)
NM_019066.5(MAGEL2):c.1249C>T (p.Arg417Cys)
NM_019066.5(MAGEL2):c.1298C>A (p.Ala433Asp)
NM_019066.5(MAGEL2):c.1321C>T (p.Pro441Ser)
NM_019066.5(MAGEL2):c.1430C>G (p.Pro477Arg)
NM_019066.5(MAGEL2):c.16A>G (p.Lys6Glu)
NM_019066.5(MAGEL2):c.1742A>C (p.His581Pro)
NM_019066.5(MAGEL2):c.1772A>G (p.Lys591Arg)
NM_019066.5(MAGEL2):c.1784C>T (p.Pro595Leu)
NM_019066.5(MAGEL2):c.1895C>A (p.Ala632Asp)
NM_019066.5(MAGEL2):c.1963T>C (p.Ser655Pro)
NM_019066.5(MAGEL2):c.2107G>C (p.Ala703Pro)
NM_019066.5(MAGEL2):c.2119C>T (p.Pro707Ser)
NM_019066.5(MAGEL2):c.2120C>T (p.Pro707Leu)
NM_019066.5(MAGEL2):c.220G>C (p.Ala74Pro)
NM_019066.5(MAGEL2):c.2296C>G (p.Arg766Gly)
NM_019066.5(MAGEL2):c.2572A>T (p.Thr858Ser) rs1343066533
NM_019066.5(MAGEL2):c.2701C>T (p.His901Tyr)
NM_019066.5(MAGEL2):c.272C>T (p.Pro91Leu)
NM_019066.5(MAGEL2):c.2745G>T (p.Glu915Asp)
NM_019066.5(MAGEL2):c.3035T>A (p.Val1012Glu)
NM_019066.5(MAGEL2):c.3257C>A (p.Ala1086Asp)
NM_019066.5(MAGEL2):c.3633C>A (p.Ser1211Arg)
NM_019066.5(MAGEL2):c.3720C>A (p.His1240Gln)
NM_019066.5(MAGEL2):c.3727A>G (p.Thr1243Ala)
NM_019066.5(MAGEL2):c.451C>A (p.His151Asn)
NM_019066.5(MAGEL2):c.465G>A (p.Pro155=)
NM_019066.5(MAGEL2):c.959C>T (p.Ala320Val)
NM_022455.5(NSD1):c.1249A>T (p.Ile417Phe)
NM_022455.5(NSD1):c.1760G>C (p.Gly587Ala)
NM_022455.5(NSD1):c.1843T>G (p.Cys615Gly)
NM_022455.5(NSD1):c.2308G>A (p.Gly770Ser)
NM_022455.5(NSD1):c.2800G>A (p.Val934Ile)
NM_022455.5(NSD1):c.3014T>G (p.Leu1005Arg)
NM_022455.5(NSD1):c.3578G>A (p.Ser1193Asn)
NM_022455.5(NSD1):c.58G>T (p.Val20Leu) rs377302741
NM_022455.5(NSD1):c.6733G>A (p.Ala2245Thr)
NM_022455.5(NSD1):c.7675G>A (p.Ala2559Thr)
NM_030665.4(RAI1):c.1618G>T (p.Ala540Ser)
NM_030665.4(RAI1):c.1777G>T (p.Asp593Tyr)
NM_030665.4(RAI1):c.274C>A (p.Gln92Lys)
NM_030665.4(RAI1):c.4462A>G (p.Ser1488Gly)
NM_030665.4(RAI1):c.5407C>G (p.Arg1803Gly)
NM_078480.3(PUF60):c.1046G>C (p.Gly349Ala)
NM_078480.3(PUF60):c.1187C>T (p.Ser396Leu)
NM_078480.3(PUF60):c.11C>G (p.Ala4Gly)
NM_078480.3(PUF60):c.1381-3_1381-2del
NM_078480.3(PUF60):c.1384A>G (p.Thr462Ala)
NM_078480.3(PUF60):c.914C>T (p.Pro305Leu)

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