ClinVar Miner

List of variants in gene combination GH-LCR, SCN4A reported as benign for Potassium aggravated myotonia

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Total variants: 20
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HGVS dbSNP
NM_000334.4(SCN4A):c.*122G>A rs2228997
NM_000334.4(SCN4A):c.*1271T>A rs2727277
NM_000334.4(SCN4A):c.*1357A>G rs113012761
NM_000334.4(SCN4A):c.*1394_*1403dupATATATGTGT rs112489358
NM_000334.4(SCN4A):c.*1427T>C rs2727278
NM_000334.4(SCN4A):c.*1689_*1690dupTG rs66908473
NM_000334.4(SCN4A):c.*1737A>G rs16947276
NM_000334.4(SCN4A):c.*22A>G rs2228995
NM_000334.4(SCN4A):c.*563G>A rs2532112
NM_000334.4(SCN4A):c.*710T>C rs2532111
NM_000334.4(SCN4A):c.2631T>C (p.Asp877=) rs79893125
NM_000334.4(SCN4A):c.2919C>T (p.Pro973=) rs73992419
NM_000334.4(SCN4A):c.2989+5G>A rs115695396
NM_000334.4(SCN4A):c.3318+12C>A rs13341114
NM_000334.4(SCN4A):c.4126A>G (p.Asn1376Asp) rs2058194
NM_000334.4(SCN4A):c.4288+10G>T rs114059193
NM_000334.4(SCN4A):c.4539C>A (p.Ile1513=) rs56342400
NM_000334.4(SCN4A):c.4869A>G (p.Thr1623=) rs2070720
NM_000334.4(SCN4A):c.5403C>T (p.Ala1801=) rs2227907
NM_000334.4(SCN4A):c.5478T>G (p.Thr1826=) rs2227906

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