ClinVar Miner

List of variants reported as uncertain significance for chromosomal disorder by Baylor Genetics

Included ClinVar conditions (201):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 100
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HGVS dbSNP gnomAD frequency
NM_014679.5(CEP57):c.677G>A (p.Arg226His) rs143711180 0.00168
NM_000057.4(BLM):c.11T>C (p.Val4Ala) rs144706057 0.00102
NM_001211.6(BUB1B):c.3094A>C (p.Asn1032His) rs34700927 0.00077
NM_030665.4(RAI1):c.3208G>A (p.Gly1070Arg) rs370633684 0.00026
NM_014679.5(CEP57):c.95C>T (p.Ser32Phe) rs139110744 0.00021
NM_000057.4(BLM):c.3751+10C>T rs199685140 0.00016
NM_001211.6(BUB1B):c.1943C>T (p.Thr648Ile) rs148348158 0.00016
NM_014679.5(CEP57):c.764A>G (p.Asn255Ser) rs768269976 0.00012
NM_016111.4(TELO2):c.1129C>T (p.Arg377Trp) rs200293618 0.00012
NM_000057.4(BLM):c.1097T>C (p.Ile366Thr) rs571152089 0.00011
NM_000057.4(BLM):c.1315A>G (p.Met439Val) rs201231857 0.00011
NM_030665.4(RAI1):c.3883C>T (p.Pro1295Ser) rs372337877 0.00009
NM_000057.4(BLM):c.1237G>A (p.Glu413Lys) rs887921909 0.00006
NM_000057.4(BLM):c.3556A>G (p.Lys1186Glu) rs750532596 0.00004
NM_001378120.1(MBD5):c.4088T>C (p.Ile1363Thr) rs748142226 0.00004
NM_014679.5(CEP57):c.100T>C (p.Ser34Pro) rs760029883 0.00004
NM_030665.4(RAI1):c.4849C>T (p.Pro1617Ser) rs767535015 0.00004
NM_000057.4(BLM):c.2840T>C (p.Ile947Thr) rs1024172175 0.00003
NM_004667.6(HERC2):c.7069+3G>A rs778173804 0.00003
NM_000057.4(BLM):c.3949G>A (p.Glu1317Lys) rs730880251 0.00002
NM_001378120.1(MBD5):c.718A>G (p.Arg240Gly) rs767317924 0.00002
NM_004237.4(TRIP13):c.712G>A (p.Asp238Asn) rs769856470 0.00002
NM_005573.4(LMNB1):c.360-8T>C rs376081850 0.00002
NM_014679.5(CEP57):c.444A>C (p.Glu148Asp) rs763144202 0.00002
NM_016628.5(WAC):c.367A>C (p.Lys123Gln) rs949649739 0.00002
NM_019066.5(MAGEL2):c.1640C>T (p.Pro547Leu) rs1267794670 0.00002
NM_000057.4(BLM):c.1436T>G (p.Phe479Cys) rs1418071613 0.00001
NM_000057.4(BLM):c.1490A>G (p.Gln497Arg) rs368547042 0.00001
NM_000057.4(BLM):c.3210+4A>G rs776621429 0.00001
NM_000057.4(BLM):c.3637G>A (p.Glu1213Lys) rs28385142 0.00001
NM_000057.4(BLM):c.4140T>G (p.Ser1380Arg) rs747834576 0.00001
NM_001002295.2(GATA3):c.71C>T (p.Pro24Leu) rs1485724723 0.00001
NM_001211.6(BUB1B):c.1826G>T (p.Cys609Phe) rs1260445282 0.00001
NM_001211.6(BUB1B):c.655T>C (p.Ser219Pro) rs893191577 0.00001
NM_001378120.1(MBD5):c.2688C>T (p.His896=) rs1681222021 0.00001
NM_006940.6(SOX5):c.1226C>A (p.Pro409His) rs1565958110 0.00001
NM_014679.5(CEP57):c.154C>T (p.Arg52Cys) rs749519225 0.00001
NM_014679.5(CEP57):c.233A>G (p.Asp78Gly) rs750728317 0.00001
NM_016111.4(TELO2):c.2003G>A (p.Arg668Gln) rs150934316 0.00001
NM_019066.5(MAGEL2):c.1145_1147dup (p.Trp382_Gln383insArg) rs1397065690 0.00001
NM_022455.5(NSD1):c.3404C>T (p.Pro1135Leu) rs1021852466 0.00001
NM_032322.4(RNF135):c.575C>T (p.Thr192Ile) rs1907708509 0.00001
NM_078480.3(PUF60):c.1489A>G (p.Ile497Val) rs756399764 0.00001
NM_000057.4(BLM):c.2318G>A (p.Ser773Asn) rs1896222659
NM_000057.4(BLM):c.2329A>G (p.Ile777Val) rs764097842
NM_000057.4(BLM):c.2537A>C (p.Lys846Thr) rs2151166394
NM_000057.4(BLM):c.3775G>A (p.Val1259Ile) rs1897348236
NM_000501.4(ELN):c.1178_1201del (p.Gly393_Gly400del) rs781838239
NM_001145358.2(SIN3A):c.776A>C (p.His259Pro) rs1180165033
NM_001145512.2(NFIA):c.104+5G>C rs992223479
NM_001172509.2(SATB2):c.701-12A>T rs116585116
NM_001211.6(BUB1B):c.857A>G (p.Glu286Gly) rs2037345499
NM_001256447.2(BCAP31):c.492C>G (p.Asp164Glu) rs782648908
NM_001372044.2(SHANK3):c.319G>T (p.Val107Leu) rs2082908926
NM_001372044.2(SHANK3):c.415G>A (p.Ala139Thr) rs2082909895
NM_001372044.2(SHANK3):c.781G>A (p.Ala261Thr)
NM_001378120.1(MBD5):c.2393A>G (p.Gln798Arg) rs1680753685
NM_001378120.1(MBD5):c.2645A>T (p.Gln882Leu) rs151173122
NM_001378120.1(MBD5):c.4548T>C (p.Thr1516=) rs1681478115
NM_001378120.1(MBD5):c.4837C>A (p.Pro1613Thr) rs773779478
NM_001378120.1(MBD5):c.5085G>A (p.Met1695Ile) rs1682172933
NM_001378120.1(MBD5):c.5153C>T (p.Pro1718Leu) rs1682261070
NM_001379200.1(TBX1):c.736T>C (p.Tyr246His)
NM_002397.5(MEF2C):c.1319G>A (p.Arg440Gln) rs1360994640
NM_005573.4(LMNB1):c.227C>T (p.Thr76Ile)
NM_006940.6(SOX5):c.1075G>A (p.Gly359Ser) rs754590341
NM_006940.6(SOX5):c.1280G>T (p.Gly427Val) rs780885506
NM_006940.6(SOX5):c.211T>C (p.Ser71Pro) rs2097171827
NM_006940.6(SOX5):c.251C>T (p.Thr84Ile) rs772035716
NM_006940.6(SOX5):c.353G>T (p.Arg118Leu) rs1217393451
NM_006940.6(SOX5):c.798G>T (p.Gln266His) rs2093521806
NM_014679.5(CEP57):c.1357C>G (p.Arg453Gly) rs1395763725
NM_014679.5(CEP57):c.896C>A (p.Pro299His) rs776778777
NM_014679.5(CEP57):c.89G>C (p.Arg30Pro) rs577173144
NM_016111.4(TELO2):c.1382C>T (p.Thr461Met) rs199748546
NM_016111.4(TELO2):c.1476T>G (p.Asp492Glu) rs2039707751
NM_016111.4(TELO2):c.2002C>T (p.Arg668Trp)
NM_016111.4(TELO2):c.2449G>A (p.Ala817Thr) rs2040070431
NM_019066.5(MAGEL2):c.113G>A (p.Arg38Gln)
NM_019066.5(MAGEL2):c.1188G>A (p.Trp396Ter) rs1890410630
NM_019066.5(MAGEL2):c.1276G>A (p.Gly426Ser) rs1890407784
NM_019066.5(MAGEL2):c.1972G>A (p.Ala658Thr) rs1890385864
NM_019066.5(MAGEL2):c.2147C>T (p.Thr716Ile)
NM_019066.5(MAGEL2):c.2839G>C (p.Glu947Gln) rs1890360315
NM_019066.5(MAGEL2):c.877G>A (p.Gly293Ser) rs983547801
NM_022455.5(NSD1):c.1382C>T (p.Thr461Ile) rs776330654
NM_022455.5(NSD1):c.2051T>G (p.Ile684Arg) rs1281302772
NM_022455.5(NSD1):c.3418G>A (p.Val1140Ile) rs1763367854
NM_022455.5(NSD1):c.3965G>C (p.Arg1322Pro) rs750684515
NM_022455.5(NSD1):c.56C>T (p.Pro19Leu) rs1756207246
NM_022455.5(NSD1):c.6632A>G (p.Asn2211Ser) rs2127279586
NM_022455.5(NSD1):c.7159C>G (p.Pro2387Ala) rs1416255762
NM_022455.5(NSD1):c.7648G>A (p.Glu2550Lys) rs1180593710
NM_022455.5(NSD1):c.7922C>T (p.Ala2641Val) rs1371700950
NM_030665.4(RAI1):c.2918C>G (p.Ala973Gly) rs2032220904
NM_030665.4(RAI1):c.424G>T (p.Asp142Tyr) rs2032095988
NM_030665.4(RAI1):c.4967C>G (p.Ser1656Cys) rs774532013
NM_078480.3(PUF60):c.1292C>T (p.Pro431Leu) rs1816390931
NM_078480.3(PUF60):c.1376A>G (p.Gln459Arg)
NM_078480.3(PUF60):c.603G>A (p.Lys201=) rs1816591218

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