ClinVar Miner

List of variants studied for familial hemolytic anemia by GeneReviews

Included ClinVar conditions (77):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 37
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HGVS dbSNP gnomAD frequency
NM_000375.3(UROS):c.-219C>A rs4385801 0.41780
NM_000375.3(UROS):c.217T>C (p.Cys73Arg) rs121908012 0.00022
NM_138477.2(CDAN1):c.2015C>T (p.Pro672Leu) rs120074167 0.00013
NM_001114134.2(EPB42):c.859C>T (p.Arg287Cys) rs515726212 0.00009
NM_000375.3(UROS):c.673G>A (p.Gly225Ser) rs121908020 0.00006
NM_138477.4(CDAN1):c.3389C>T (p.Pro1130Leu) rs80338699 0.00005
NM_001386140.1(MTTP):c.1619G>A (p.Arg540His) rs199422220 0.00004
NM_000119.2(EPB42):c.424G>A (p.Ala142Thr) rs104894487 0.00001
NM_000375.3(UROS):c.-203T>C rs1554891988 0.00001
NM_000375.3(UROS):c.244G>T (p.Val82Phe) rs121908016 0.00001
NM_001114134.2(EPB42):c.830C>T (p.Thr277Ile) rs515726211 0.00001
NM_002049.4(GATA1):c.647G>A (p.Arg216Gln) rs104894809 0.00001
NM_000119.2(EPB42):c.929G>A (p.Arg310Gln) rs121917734
NM_000375.3(UROS):c.-26-183G>A rs397515349
NM_000375.3(UROS):c.-26-197C>A rs397515351
NM_000375.3(UROS):c.139T>C (p.Ser47Pro) rs397515527
NM_000375.3(UROS):c.197C>T (p.Ala66Val) rs28941774
NM_000375.3(UROS):c.311C>T (p.Ala104Val) rs397515528
NM_001114134.2(EPB42):c.433G>T (p.Asp145Tyr) rs143682977
NM_001114134.2(EPB42):c.860del (p.Arg287fs) rs515726213
NM_001321759.2(CDIN1):c.281A>G (p.Tyr94Cys) rs587777101
NM_001321759.2(CDIN1):c.533T>A (p.Leu178Gln) rs587777100
NM_001386140.1(MTTP):c.1304T>A (p.Leu435His) rs1560621495
NM_001386140.1(MTTP):c.1769G>T (p.Ser590Ile) rs199422222
NM_001386140.1(MTTP):c.2237G>A (p.Gly746Glu) rs767833468
NM_001386140.1(MTTP):c.2338A>T (p.Asn780Tyr) rs199422221
NM_002049.4(GATA1):c.1240T>C (p.Ter414Arg) rs587776456
NM_002049.4(GATA1):c.220+1del rs587776453
NM_002049.4(GATA1):c.220G>C (p.Val74Leu) rs587776452
NM_002049.4(GATA1):c.2T>C (p.Met1Thr) rs587776451
NM_002049.4(GATA1):c.613G>A (p.Val205Met) rs104894815
NM_002049.4(GATA1):c.622G>C (p.Gly208Arg) rs587776454
NM_002049.4(GATA1):c.622_623delinsTC (p.Gly208Ser) rs137852312
NM_002049.4(GATA1):c.646C>T (p.Arg216Trp) rs387907207
NM_002049.4(GATA1):c.652G>T (p.Asp218Tyr) rs104894808
NM_002049.4(GATA1):c.653A>G (p.Asp218Gly) rs104894816
NM_138477.4(CDAN1):c.3124C>T (p.Arg1042Trp) rs80338697

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