ClinVar Miner

List of variants in gene RYR2 reported as uncertain significance for congenital heart disease

Included ClinVar conditions (290):
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Gene type:
ClinVar version:
Total variants: 21
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HGVS dbSNP gnomAD frequency
NM_001035.3(RYR2):c.13291G>A (p.Glu4431Lys) rs571985775 0.00028
NM_001035.3(RYR2):c.8831-9A>C rs187977513 0.00026
NM_001035.3(RYR2):c.2389G>A (p.Gly797Arg) rs200121281 0.00021
NM_001035.3(RYR2):c.1318G>A (p.Ala440Thr) rs371878264 0.00008
NM_001035.3(RYR2):c.5278C>T (p.Arg1760Trp) rs776550479 0.00003
NM_001035.3(RYR2):c.8470C>T (p.Arg2824Trp) rs796052204 0.00002
NM_001035.3(RYR2):c.1346T>G (p.Ile449Arg) rs373331669 0.00001
NM_001035.3(RYR2):c.5420G>A (p.Arg1807Gln) rs730880192 0.00001
NM_001035.3(RYR2):c.5751G>T (p.Gln1917His) rs1259517167 0.00001
NM_001035.3(RYR2):c.11017C>T (p.Arg3673Trp) rs796052205
NM_001035.3(RYR2):c.12272C>T (p.Ala4091Val) rs794728783
NM_001035.3(RYR2):c.1259G>A (p.Arg420Gln) rs794728721
NM_001035.3(RYR2):c.1298T>C (p.Leu433Pro) rs121918602
NM_001035.3(RYR2):c.13412G>C (p.Gly4471Ala) rs1553325274
NM_001035.3(RYR2):c.13780A>C (p.Lys4594Gln) rs796052207
NM_001035.3(RYR2):c.355A>G (p.Ile119Val) rs1477582479
NM_001035.3(RYR2):c.497C>G (p.Ser166Cys) rs796052203
NM_001035.3(RYR2):c.5042A>G (p.Asp1681Gly)
NM_001035.3(RYR2):c.8048C>T (p.Ser2683Leu) rs776621043
NM_001035.3(RYR2):c.9392A>G (p.Tyr3131Cys) rs1342384519
NM_001035.3(RYR2):c.9703A>T (p.Met3235Leu) rs773957909

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