ClinVar Miner

List of variants reported as likely pathogenic for chromosomal disorder by Baylor Genetics

Included ClinVar conditions (201):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 83
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HGVS dbSNP gnomAD frequency
NM_000057.4(BLM):c.3210+2del rs587779886 0.00003
NM_000057.4(BLM):c.1301C>G (p.Ser434Ter) rs754203833 0.00001
NM_000057.4(BLM):c.2015A>G (p.Gln672Arg) rs747281324 0.00001
NM_000057.4(BLM):c.2407T>C (p.Trp803Arg) rs148394770 0.00001
NM_000057.4(BLM):c.2823+2T>A rs1896712920 0.00001
NM_000057.4(BLM):c.3163T>C (p.Cys1055Arg) rs746218707 0.00001
NM_000057.4(BLM):c.3667dup (p.Thr1223fs) rs1057517154 0.00001
GRCh37/hg19 16p12.2(chr16:21943463-22702769)
GRCh37/hg19 16p12.2(chr16:21973828-22361172)
GRCh37/hg19 2q37.3(chr2:238795602-242918203)
NM_000057.4(BLM):c.1087+1G>A rs1179486581
NM_000057.4(BLM):c.1087+1G>T
NM_000057.4(BLM):c.1088-1G>A rs1555419696
NM_000057.4(BLM):c.1220+1G>T
NM_000057.4(BLM):c.1221-2A>C rs1555419779
NM_000057.4(BLM):c.1399dup (p.Asp467fs) rs1555419862
NM_000057.4(BLM):c.1450A>T (p.Lys484Ter)
NM_000057.4(BLM):c.1487del (p.Leu496fs) rs2151158316
NM_000057.4(BLM):c.1515G>A (p.Trp505Ter)
NM_000057.4(BLM):c.1622del (p.Asn541fs)
NM_000057.4(BLM):c.1882+2T>C
NM_000057.4(BLM):c.1953_1956del (p.His651fs)
NM_000057.4(BLM):c.2023dup (p.Ala675fs)
NM_000057.4(BLM):c.2086_2087del (p.Ser696fs)
NM_000057.4(BLM):c.213_214del (p.Ser72fs) rs960430492
NM_000057.4(BLM):c.2145del (p.Pro715_Leu716insTer)
NM_000057.4(BLM):c.2181_2188del (p.Thr728fs)
NM_000057.4(BLM):c.2291_2292del (p.Tyr764fs) rs1555420602
NM_000057.4(BLM):c.2349_2350del (p.Leu783_Tyr784insTer) rs1555420844
NM_000057.4(BLM):c.2404_2407del (p.Gln802fs) rs1567045235
NM_000057.4(BLM):c.2407-2A>G
NM_000057.4(BLM):c.2410G>T (p.Gly804Ter) rs1412341951
NM_000057.4(BLM):c.2516del (p.Lys839fs)
NM_000057.4(BLM):c.2522T>C (p.Ile841Thr) rs767086502
NM_000057.4(BLM):c.2555+1G>A
NM_000057.4(BLM):c.2595T>A (p.Tyr865Ter) rs1060503989
NM_000057.4(BLM):c.2603del (p.Pro868fs)
NM_000057.4(BLM):c.2642G>A (p.Trp881Ter)
NM_000057.4(BLM):c.2654_2660delinsTG (p.His885fs)
NM_000057.4(BLM):c.2662+2T>G rs1567052324
NM_000057.4(BLM):c.2677dup (p.Ile893fs)
NM_000057.4(BLM):c.2756del (p.His919fs)
NM_000057.4(BLM):c.3210+1G>A
NM_000057.4(BLM):c.3222_3223del (p.Asp1076fs) rs1555423753
NM_000057.4(BLM):c.3265del (p.Gln1089fs)
NM_000057.4(BLM):c.3358+1G>A
NM_000057.4(BLM):c.3358+1G>T
NM_000057.4(BLM):c.3359-1G>A
NM_000057.4(BLM):c.3359-2A>G
NM_000057.4(BLM):c.3421delinsTTTTT (p.Asn1141fs)
NM_000057.4(BLM):c.3437_3438del (p.Leu1145_Phe1146insTer)
NM_000057.4(BLM):c.3678C>A (p.Cys1226Ter) rs1897236255
NM_000057.4(BLM):c.3845del (p.Leu1282fs) rs1897350204
NM_000057.4(BLM):c.3866dup (p.Ser1290fs)
NM_000057.4(BLM):c.3874+2T>C rs1555424890
NM_000057.4(BLM):c.3975C>A (p.Tyr1325Ter)
NM_000057.4(BLM):c.418G>T (p.Glu140Ter)
NM_000057.4(BLM):c.516del (p.Gln174fs)
NM_000057.4(BLM):c.646G>T (p.Glu216Ter)
NM_000057.4(BLM):c.709del (p.Cys237fs) rs1217879599
NM_000057.4(BLM):c.746del (p.Asn249fs)
NM_000057.4(BLM):c.75_78del (p.Leu25fs)
NM_000057.4(BLM):c.800-2A>G rs1895690125
NM_000057.4(BLM):c.804_805del (p.Asn268fs)
NM_000057.4(BLM):c.855del (p.Val286fs) rs2151149598
NM_000057.4(BLM):c.8_9dup (p.Val4fs)
NM_000057.4(BLM):c.960-1G>A rs1596223715
NM_000057.4(BLM):c.960-2A>C rs1286600850
NM_000304.4(PMP22):c.469C>T (p.Arg157Trp) rs28936682
NM_000612.6(IGF2):c.106del (p.Glu36fs)
NM_001002295.2(GATA3):c.639_648del (p.Ser214fs)
NM_001110792.2(MECP2):c.1174_1178del (p.Val392fs)
NM_001145358.2(SIN3A):c.2005C>T (p.Leu669Phe) rs2073302769
NM_001145358.2(SIN3A):c.240_252dup (p.His85delinsSerSerTer)
NM_001172509.2(SATB2):c.1307A>T (p.Glu436Val) rs1688103803
NM_001372044.2(SHANK3):c.3443_3449del (p.Pro1148fs)
NM_001379200.1(TBX1):c.437+1G>C
NM_002397.5(MEF2C):c.137T>A (p.Ile46Asn) rs1799660837
NM_002397.5(MEF2C):c.68A>G (p.Lys23Arg) rs797045053
NM_022455.5(NSD1):c.5710C>T (p.Pro1904Ser)
NM_022455.5(NSD1):c.5907_5908insA (p.Glu1970fs)
NM_022455.5(NSD1):c.6029G>T (p.Gly2010Val)
NM_030665.4(RAI1):c.2763_2764del (p.Glu923fs)

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