ClinVar Miner

List of variants reported as uncertain significance for hematologic disorder by Genomic Research Center, Shahid Beheshti University of Medical Sciences

Included ClinVar conditions (819):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 31
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HGVS dbSNP gnomAD frequency
NM_015506.3(MMACHC):c.316G>A (p.Glu106Lys) rs201617713 0.00081
NM_000365.6(TPI1):c.617G>A (p.Arg206His) rs782417309 0.00007
NM_000135.4(FANCA):c.3536C>G (p.Pro1179Arg) rs141422170 0.00005
NM_002454.3(MTRR):c.1165G>A (p.Val389Met) rs774333382 0.00004
NM_005050.4(ABCD4):c.1346C>T (p.Thr449Met) rs969369250 0.00004
NM_001142864.4(PIEZO1):c.3107G>A (p.Arg1036His) rs769506340 0.00003
NM_015338.6(ASXL1):c.1910C>G (p.Ala637Gly) rs769053835 0.00002
NM_000057.4(BLM):c.205G>A (p.Glu69Lys) rs746195311
NM_000116.5(TAFAZZIN):c.29C>G (p.Pro10Arg) rs781941217
NM_000487.6(ARSA):c.947C>A (p.Ala316Asp) rs1569078754
NM_000611.6(CD59):c.190T>G (p.Cys64Gly) rs1554939509
NM_000611.6(CD59):c.85T>G (p.Tyr29Asp) rs1564972905
NM_000617.3(SLC11A2):c.715G>A (p.Gly239Ser) rs1592344306
NM_000969.5(RPL5):c.118G>A (p.Asp40Asn) rs1553285006
NM_000969.5(RPL5):c.701A>G (p.Asp234Gly) rs576330538
NM_001011.4(RPS7):c.519T>A (p.Phe173Leu) rs1572360947
NM_001172303.3(MASTL):c.867T>A (p.Asn289Lys) rs535159862
NM_001283009.2(RTEL1):c.2627AGA[1] (p.Lys877del) rs1555812473
NM_001346754.2(PIGW):c.608T>G (p.Leu203Trp) rs12952744
NM_001770.6(CD19):c.1042T>C (p.Tyr348His) rs1596717340
NM_001783.4(CD79A):c.419C>T (p.Thr140Ile) rs148797987
NM_002872.5(RAC2):c.108-8C>G rs1601672720
NM_004629.2(FANCG):c.84+53G>T rs1563987651
NM_006846.4(SPINK5):c.1712_1714del (p.Arg571del) rs1554105558
NM_015338.6(ASXL1):c.4109AGA[1] (p.Lys1371del) rs752856195
NM_015338.6(ASXL1):c.4282TCT[1] (p.Ser1429del) rs1203207717
NM_015702.3(MMADHC):c.607A>G (p.Lys203Glu) rs1553453961
NM_015937.6(PIGT):c.602T>C (p.Leu201Pro) rs1555876854
NM_016734.3(PAX5):c.435G>C (p.Gln145His) rs758368747
NM_018389.5(SLC35C1):c.1001C>A (p.Ser334Tyr) rs1554953926
NM_152564.5(VPS13B):c.9463C>T (p.Leu3155Phe) rs1588761583

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