ClinVar Miner

List of variants reported as pathogenic for hematologic disorder by Centre for Mendelian Genomics, University Medical Centre Ljubljana

Included ClinVar conditions (819):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 34
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HGVS dbSNP gnomAD frequency
NM_012452.3(TNFRSF13B):c.542C>A (p.Ala181Glu) rs72553883 0.00518
NM_203447.4(DOCK8):c.54-1G>T rs192864327 0.00036
NM_000518.5(HBB):c.118C>T (p.Gln40Ter) rs11549407 0.00026
NM_006363.6(SEC23B):c.325G>A (p.Glu109Lys) rs121918221 0.00024
NM_001164277.2(SLC37A4):c.1243C>T (p.Arg415Ter) rs121908979 0.00004
NM_006363.6(SEC23B):c.689+1G>A rs398124226 0.00003
NM_015338.6(ASXL1):c.1210C>T (p.Arg404Ter) rs373145711 0.00003
NM_152564.5(VPS13B):c.11239C>T (p.Gln3747Ter) rs386834061 0.00002
NM_000132.4(F8):c.5122C>T (p.Arg1708Cys) rs111033613 0.00001
NM_000135.4(FANCA):c.856C>T (p.Gln286Ter) rs1291524243 0.00001
NM_000254.3(MTR):c.2474-1G>C rs757963570 0.00001
NM_003126.4(SPTA1):c.2320C>T (p.Arg774Ter) rs751026146 0.00001
NM_032383.5(HPS3):c.2464C>T (p.Arg822Ter) rs369855073 0.00001
NM_058216.3(RAD51C):c.709C>T (p.Arg237Ter) rs770637624 0.00001
GRCh37/hg19 15q11.2(chr15:22765628-23300287)
GRCh37/hg19 17p11.2(chr17:16936603-18184130)
GRCh37/hg19 22q11.21(chr22:18894835-21505417)
GRCh37/hg19 Xq28(chrX:153138672-153665655)
NC_000011.10:g.5226570_5233984del
NM_000195.5(HPS1):c.1189del (p.Gln397fs) rs281865084
NM_000254.3(MTR):c.610-1G>T rs1661544157
NM_000402.4(G6PD):c.1466G>C (p.Arg489Pro) rs72554665
NM_000505.4(F12):c.983C>G (p.Thr328Arg) rs118204456
NM_000517.6(HBA2):c.410T>C (p.Leu137Pro) rs41469945
NM_000552.5(VWF):c.7770+1G>T rs200770256
NM_000969.5(RPL5):c.74-1G>C rs1553284997
NM_001029.5(RPS26):c.224_225del (p.Val75fs) rs1555208596
NM_001355436.2(SPTB):c.5794_5798+6del rs1555367318
NM_002296.4(LBR):c.1639A>G (p.Asn547Asp) rs587777171
NM_030943.4(AMN):c.320_321dup (p.Asp108fs) rs1555381324
NM_031443.4(CCM2):c.354C>G (p.Tyr118Ter) rs765548101
NM_058216.3(RAD51C):c.572-1G>C rs1413872299
NM_152564.5(VPS13B):c.4545del (p.Ser1516fs) rs1057518939
NM_194454.3(KRIT1):c.902C>G (p.Ser301Ter) rs1554527169

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