ClinVar Miner

List of variants in gene combination SCN1A, SCN9A studied for Congenital Indifference to Pain

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Total variants: 24
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HGVS dbSNP gnomAD frequency
NM_001365536.1(SCN9A):c.*1118_*1119insCA rs140616949 0.11174
NM_001365536.1(SCN9A):c.*771_*772dup rs144515054 0.07233
NM_001365536.1(SCN9A):c.*1605del rs148459420 0.06695
NM_001365536.1(SCN9A):c.2875-5del rs774840081 0.00011
NM_001365536.1(SCN9A):c.4503+8_4503+9insT rs767624579 0.00003
NM_001365536.1(SCN9A):c.*2744del rs763459885 0.00002
NM_001365536.1(SCN9A):c.3464T>A (p.Phe1155Tyr) rs750839038 0.00001
NM_001365536.1(SCN9A):c.3497G>A (p.Cys1166Tyr) rs370455223 0.00001
NM_001365536.1(SCN9A):c.*1434dup rs199505193
NM_001365536.1(SCN9A):c.*1605_*1606del rs200091138
NM_001365536.1(SCN9A):c.*165_*167dup rs886055049
NM_001365536.1(SCN9A):c.*1960_*1962dup rs202073550
NM_001365536.1(SCN9A):c.*244_*247dup rs143461219
NM_001365536.1(SCN9A):c.*2616_*2626del rs145255931
NM_001365536.1(SCN9A):c.*416dup rs3834910
NM_001365536.1(SCN9A):c.*491del rs886055047
NM_001365536.1(SCN9A):c.*529_*530del rs140024416
NM_001365536.1(SCN9A):c.*798dup rs564394161
NM_001365536.1(SCN9A):c.1603-14dup rs200430382
NM_001365536.1(SCN9A):c.1975-3del rs35888674
NM_001365536.1(SCN9A):c.1975-3dup rs35888674
NM_001365536.1(SCN9A):c.2874+13del rs200434162
NM_001365536.1(SCN9A):c.4399-10_4399-7del rs77944059
NM_001365536.1(SCN9A):c.4434GAA[1] (p.Lys1480del) rs886055050

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