ClinVar Miner

List of variants in gene RYR3 reported as uncertain significance for not provided

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Total variants: 43
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HGVS dbSNP gnomAD frequency
NM_001036.6(RYR3):c.9254C>G (p.Pro3085Arg) rs61996335 0.00307
NM_001036.6(RYR3):c.7490A>G (p.Asn2497Ser) rs61996331 0.00195
NM_001036.6(RYR3):c.10698G>A (p.Thr3566=) rs200309704 0.00163
NM_001036.6(RYR3):c.6698G>A (p.Arg2233Gln) rs199648816 0.00104
NM_001036.6(RYR3):c.11839G>A (p.Ala3947Thr) rs201375567 0.00086
NM_001036.6(RYR3):c.5393G>A (p.Arg1798Gln) rs148818748 0.00080
NM_001036.6(RYR3):c.7249A>G (p.Ile2417Val) rs200294137 0.00055
NM_001036.6(RYR3):c.6850G>A (p.Ala2284Thr) rs201633381 0.00046
NM_001036.6(RYR3):c.6835G>A (p.Val2279Met) rs41279210 0.00041
NM_001036.6(RYR3):c.8236A>G (p.Ile2746Val) rs201914506 0.00039
NM_001036.6(RYR3):c.13207C>T (p.Leu4403=) rs369324246 0.00006
NM_001036.6(RYR3):c.10346A>G (p.Glu3449Gly) rs756934182 0.00004
NM_001036.6(RYR3):c.11891C>T (p.Ser3964Leu) rs750201337 0.00004
NM_001036.6(RYR3):c.1945G>C (p.Gly649Arg) rs368209451 0.00003
NM_001036.6(RYR3):c.556G>A (p.Val186Ile) rs761547558 0.00002
NM_001036.6(RYR3):c.11494G>A (p.Ala3832Thr) rs1401792313 0.00001
NM_001036.6(RYR3):c.13197G>C (p.Gln4399His) rs772448824 0.00001
NM_001036.6(RYR3):c.30C>A (p.Asp10Glu) rs761390620 0.00001
NM_001036.6(RYR3):c.3800C>T (p.Pro1267Leu) rs768607761 0.00001
NM_001036.6(RYR3):c.592A>G (p.Met198Val) rs139577597 0.00001
NM_001036.6(RYR3):c.7849A>G (p.Ile2617Val) rs757395431 0.00001
GRCh37/hg19 15q13.3-14(chr15:33428315-33957759)x3
GRCh37/hg19 15q13.3-14(chr15:33576926-33871487)x1
GRCh37/hg19 15q13.3-14(chr15:33583484-33839194)x3
NM_001036.6(RYR3):c.10196A>G (p.His3399Arg)
NM_001036.6(RYR3):c.10922T>C (p.Met3641Thr) rs374701627
NM_001036.6(RYR3):c.12550C>T (p.Leu4184Phe) rs1414118993
NM_001036.6(RYR3):c.13339A>G (p.Asn4447Asp) rs1555488268
NM_001036.6(RYR3):c.13627C>T (p.Pro4543Ser)
NM_001036.6(RYR3):c.1539G>A (p.Trp513Ter) rs1595699589
NM_001036.6(RYR3):c.1775G>A (p.Gly592Glu)
NM_001036.6(RYR3):c.2195A>G (p.Asn732Ser)
NM_001036.6(RYR3):c.2945T>C (p.Leu982Ser)
NM_001036.6(RYR3):c.3952C>G (p.Gln1318Glu) rs370044621
NM_001036.6(RYR3):c.4307A>C (p.Gln1436Pro) rs765877934
NM_001036.6(RYR3):c.4396-5C>T
NM_001036.6(RYR3):c.5144G>A (p.Gly1715Glu) rs756272113
NM_001036.6(RYR3):c.7570T>C (p.Trp2524Arg)
NM_001036.6(RYR3):c.7589C>T (p.Ala2530Val)
NM_001036.6(RYR3):c.773C>T (p.Thr258Ile)
NM_001036.6(RYR3):c.775C>T (p.Arg259Ter) rs751973008
NM_001036.6(RYR3):c.7777G>A (p.Asp2593Asn)
NM_001036.6(RYR3):c.7899+8T>C

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