ClinVar Miner

List of variants in gene SRP72 reported as benign for hematologic disorder

Included ClinVar conditions (812):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 31
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HGVS dbSNP gnomAD frequency
NM_006947.4(SRP72):c.826-23A>G rs7700034 0.40194
NM_006947.4(SRP72):c.*780C>T rs10518 0.35479
NM_006947.4(SRP72):c.610+35C>T rs11610 0.33008
NM_006947.4(SRP72):c.*173T>C rs10051 0.19449
NM_006947.4(SRP72):c.*732A>G rs14211 0.19317
NM_006947.4(SRP72):c.*1603A>G rs1142851 0.13141
NM_006947.4(SRP72):c.*442A>G rs7762 0.08062
NM_006947.4(SRP72):c.1671A>G (p.Lys557=) rs34419325 0.08059
NM_006947.4(SRP72):c.*386G>A rs4260596 0.07511
NM_006947.4(SRP72):c.*1313C>G rs113719942 0.06349
NM_006947.4(SRP72):c.1410A>G (p.Leu470=) rs17086879 0.02284
NM_006947.4(SRP72):c.*139G>A rs28438730 0.02206
NM_006947.4(SRP72):c.*972G>A rs189886380 0.00692
NM_006947.4(SRP72):c.1380T>C (p.Tyr460=) rs73818109 0.00682
NM_006947.4(SRP72):c.686A>G (p.His229Arg) rs138986942 0.00369
NM_006947.4(SRP72):c.58C>T (p.Arg20Trp) rs111673705 0.00260
NM_006947.4(SRP72):c.*24G>A rs144710632 0.00215
NM_006947.4(SRP72):c.1803G>A (p.Gly601=) rs143643243 0.00131
NM_006947.4(SRP72):c.2004A>G (p.Lys668=) rs148068843 0.00108
NM_006947.4(SRP72):c.1704A>G (p.Pro568=) rs41280351 0.00053
NM_006947.4(SRP72):c.144G>T (p.Leu48=) rs112496764 0.00048
NM_006947.4(SRP72):c.1589T>C (p.Ile530Thr) rs192401229 0.00048
NM_006947.4(SRP72):c.789A>G (p.Leu263=) rs77935196 0.00035
NM_006947.4(SRP72):c.406G>A (p.Val136Ile) rs145817936 0.00028
NM_006947.4(SRP72):c.294G>A (p.Leu98=) rs145137299 0.00020
NM_006947.4(SRP72):c.*558T>C rs568178342 0.00018
NM_006947.4(SRP72):c.110-5T>G rs186908289 0.00010
NM_006947.4(SRP72):c.133G>A (p.Val45Ile) rs201940585 0.00006
NM_006947.4(SRP72):c.*622_*649del rs59791697
NM_006947.4(SRP72):c.1650T>C (p.Asp550=) rs202073540
NM_006947.4(SRP72):c.37G>T (p.Ala13Ser) rs781230154

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