ClinVar Miner

List of variants in gene RYR2 reported as uncertain significance by CeGaT Center for Human Genetics Tuebingen

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Total variants: 24
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HGVS dbSNP gnomAD frequency
NM_001035.3(RYR2):c.3038G>A (p.Arg1013Gln) rs149514924 0.00063
NM_001035.3(RYR2):c.13291G>A (p.Glu4431Lys) rs571985775 0.00028
NM_001035.3(RYR2):c.3251G>A (p.Arg1084Lys) rs193922624 0.00013
NM_001035.3(RYR2):c.13600C>T (p.Pro4534Ser) rs199624074 0.00005
NM_001035.3(RYR2):c.8147A>T (p.Lys2716Ile) rs749618476 0.00005
NM_001035.3(RYR2):c.13712C>T (p.Thr4571Met) rs200803276 0.00002
NM_001035.3(RYR2):c.1699G>C (p.Ala567Pro) rs753758467 0.00001
NM_001035.3(RYR2):c.5419C>T (p.Arg1807Trp) rs752863160 0.00001
GRCh37/hg19 1q43(chr1:237580349-237997288)x3
NM_001035.3(RYR2):c.10109A>G (p.Tyr3370Cys) rs1573615550
NM_001035.3(RYR2):c.10302T>A (p.Asp3434Glu)
NM_001035.3(RYR2):c.10383G>A (p.Met3461Ile)
NM_001035.3(RYR2):c.10721G>A (p.Cys3574Tyr)
NM_001035.3(RYR2):c.13320A>T (p.Glu4440Asp) rs1573942787
NM_001035.3(RYR2):c.14656-1G>A rs868323381
NM_001035.3(RYR2):c.273+1_273+2insT
NM_001035.3(RYR2):c.3078C>G (p.Asn1026Lys)
NM_001035.3(RYR2):c.4748C>T (p.Pro1583Leu) rs1421328710
NM_001035.3(RYR2):c.5012G>A (p.Arg1671Gln) rs777091366
NM_001035.3(RYR2):c.6503_6504delinsT (p.His2168fs)
NM_001035.3(RYR2):c.7244A>G (p.Glu2415Gly)
NM_001035.3(RYR2):c.8383G>A (p.Gly2795Arg)
NM_001035.3(RYR2):c.9508T>A (p.Phe3170Ile)
NM_001035.3(RYR2):c.9880G>A (p.Ala3294Thr) rs746868168

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