ClinVar Miner

List of variants studied for anemia (disease) by Baylor Miraca Genetics Laboratories,

Included ClinVar conditions (262):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 17
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GRCh37/hg19 16p13.3(chr16:216075-231021)
GRCh37/hg19 16p13.3(chr16:221962-228406)
NM_000489.5(ATRX):c.4317G>A (p.Lys1439=) rs1569535642
NM_000489.5(ATRX):c.569C>T (p.Pro190Leu) rs1057518708
NM_000518.5(HBB):c.118C>T (p.Gln40Ter) rs11549407
NM_000518.5(HBB):c.92+6T>C rs35724775
NM_001040436.3(YARS2):c.359dup (p.Asp121fs) rs797045077
NM_001040436.3(YARS2):c.751A>G (p.Ile251Val) rs372098364
NM_001363.4(DKC1):c.-142C>G rs199422241
NM_004629.1(FANCG):c.637_643del (p.Tyr213fs) rs587776640
NM_017875.4(SLC25A38):c.70-2A>C rs1233124208
NM_032444.4(SLX4):c.2975G>A (p.Gly992Glu) rs139287784
NM_032444.4(SLX4):c.3136C>T (p.Arg1046Cys)
NM_058216.3(RAD51C):c.571+5G>A rs145779113
NM_058216.3(RAD51C):c.935G>A (p.Arg312Gln) rs779834376
NM_206965.2(FTCD):c.1358C>T (p.Thr453Met) rs200283734
NM_206965.2(FTCD):c.990dup (p.Pro331fs) rs398124234

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