ClinVar Miner

List of variants in gene SRRM2 studied for not provided

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Gene type:
ClinVar version:
Total variants: 204
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HGVS dbSNP gnomAD frequency
NM_016333.4(SRRM2):c.2361A>G (p.Lys787=) rs2240141 0.77318
NM_016333.4(SRRM2):c.2410C>A (p.Pro804Thr) rs2240140 0.45100
NM_016333.4(SRRM2):c.7656C>G (p.Ser2552=) rs59593256 0.03016
NM_016333.4(SRRM2):c.2648C>G (p.Ser883Cys) rs17136053 0.02282
NM_016333.4(SRRM2):c.2567C>G (p.Thr856Arg) rs12185191 0.01095
NM_016333.4(SRRM2):c.1953C>T (p.Thr651=) rs79910471 0.00941
NM_016333.4(SRRM2):c.2988C>T (p.Tyr996=) rs140191989 0.00770
NM_016333.4(SRRM2):c.4421C>T (p.Ser1474Phe) rs140421601 0.00534
NM_016333.4(SRRM2):c.7899T>C (p.Ser2633=) rs149101693 0.00517
NM_016333.4(SRRM2):c.5990G>A (p.Arg1997His) rs138447860 0.00453
NM_016333.4(SRRM2):c.1304G>C (p.Ser435Thr) rs114899013 0.00443
NM_016333.4(SRRM2):c.7641A>G (p.Ser2547=) rs114814069 0.00441
NM_016333.4(SRRM2):c.5028A>G (p.Pro1676=) rs149288106 0.00423
NM_016333.4(SRRM2):c.931A>G (p.Ser311Gly) rs79975303 0.00389
NM_016333.4(SRRM2):c.991C>T (p.Pro331Ser) rs79168841 0.00388
NM_016333.4(SRRM2):c.7537A>G (p.Thr2513Ala) rs144257955 0.00364
NM_016333.4(SRRM2):c.3423C>G (p.Asp1141Glu) rs72768766 0.00336
NM_016333.4(SRRM2):c.3107G>C (p.Cys1036Ser) rs72768765 0.00272
NM_016333.4(SRRM2):c.7787C>T (p.Pro2596Leu) rs111694508 0.00264
NM_016333.4(SRRM2):c.8098C>T (p.Arg2700Cys) rs116681042 0.00218
NM_016333.4(SRRM2):c.7878T>C (p.Ser2626=) rs374269313 0.00161
NM_016333.4(SRRM2):c.1001C>T (p.Pro334Leu) rs150235008 0.00127
NM_016333.4(SRRM2):c.7647G>A (p.Ser2549=) rs117364218 0.00091
NM_016333.4(SRRM2):c.1037C>T (p.Ser346Phe) rs149019598 0.00073
NM_016333.4(SRRM2):c.4245G>A (p.Ser1415=) rs145082336 0.00038
NM_016333.4(SRRM2):c.7662C>T (p.Ser2554=) rs148768052 0.00031
NM_016333.4(SRRM2):c.4784G>A (p.Arg1595His) rs200200979 0.00028
NM_016333.4(SRRM2):c.816C>T (p.Ser272=) rs371659656 0.00026
NM_016333.4(SRRM2):c.3246A>G (p.Glu1082=) rs148557286 0.00014
NM_016333.4(SRRM2):c.7452G>A (p.Thr2484=) rs139501890 0.00009
NM_016333.4(SRRM2):c.3402G>A (p.Glu1134=) rs776574316 0.00006
NM_016333.4(SRRM2):c.7101C>G (p.Thr2367=) rs372680597 0.00006
NM_016333.4(SRRM2):c.5856A>G (p.Pro1952=) rs749151815 0.00005
NM_016333.4(SRRM2):c.1947T>C (p.Ser649=) rs534401777 0.00003
NM_016333.4(SRRM2):c.3891A>T (p.Glu1297Asp) rs1437809037 0.00001
NM_016333.4(SRRM2):c.5364A>G (p.Arg1788=) rs909271227 0.00001
NC_000016.10:g.2770601CAG[5]
NM_016333.4(SRRM2):c.1015G>A (p.Asp339Asn)
NM_016333.4(SRRM2):c.1032+5G>T
NM_016333.4(SRRM2):c.1125C>T (p.Gly375=)
NM_016333.4(SRRM2):c.1282A>G (p.Thr428Ala)
NM_016333.4(SRRM2):c.136G>T (p.Glu46Ter)
NM_016333.4(SRRM2):c.1490C>G (p.Ser497Cys)
NM_016333.4(SRRM2):c.14T>C (p.Ile5Thr)
NM_016333.4(SRRM2):c.160A>T (p.Asn54Tyr)
NM_016333.4(SRRM2):c.1636A>G (p.Arg546Gly)
NM_016333.4(SRRM2):c.1651A>G (p.Arg551Gly)
NM_016333.4(SRRM2):c.1679G>A (p.Gly560Glu)
NM_016333.4(SRRM2):c.1685C>T (p.Ser562Phe)
NM_016333.4(SRRM2):c.1687_1688insGAC (p.Ser562_His563insArg)
NM_016333.4(SRRM2):c.1719_1751del (p.571GRSRSRTPARR[1])
NM_016333.4(SRRM2):c.1888C>T (p.Pro630Ser)
NM_016333.4(SRRM2):c.1964G>A (p.Arg655His)
NM_016333.4(SRRM2):c.1965_1967del (p.Gly656del)
NM_016333.4(SRRM2):c.2080T>A (p.Ser694Thr)
NM_016333.4(SRRM2):c.2086A>G (p.Thr696Ala)
NM_016333.4(SRRM2):c.2128C>A (p.Arg710Ser)
NM_016333.4(SRRM2):c.2173G>A (p.Gly725Ser)
NM_016333.4(SRRM2):c.2180C>G (p.Ser727Cys)
NM_016333.4(SRRM2):c.2220A>C (p.Arg740Ser)
NM_016333.4(SRRM2):c.2236A>G (p.Ser746Gly)
NM_016333.4(SRRM2):c.227T>C (p.Met76Thr)
NM_016333.4(SRRM2):c.2335C>G (p.Leu779Val)
NM_016333.4(SRRM2):c.2387G>C (p.Arg796Pro)
NM_016333.4(SRRM2):c.2486C>T (p.Thr829Ile)
NM_016333.4(SRRM2):c.2493A>G (p.Ser831=)
NM_016333.4(SRRM2):c.2519C>G (p.Pro840Arg)
NM_016333.4(SRRM2):c.2562C>T (p.Ser854=)
NM_016333.4(SRRM2):c.266A>T (p.Glu89Val)
NM_016333.4(SRRM2):c.2681C>T (p.Ser894Phe)
NM_016333.4(SRRM2):c.2717G>A (p.Arg906Lys)
NM_016333.4(SRRM2):c.2725C>T (p.Pro909Ser)
NM_016333.4(SRRM2):c.2783_2784del (p.Arg928fs)
NM_016333.4(SRRM2):c.2787C>T (p.Ser929=)
NM_016333.4(SRRM2):c.2814T>G (p.Pro938=)
NM_016333.4(SRRM2):c.283C>G (p.Arg95Gly)
NM_016333.4(SRRM2):c.284G>A (p.Arg95Gln)
NM_016333.4(SRRM2):c.2926G>T (p.Asp976Tyr)
NM_016333.4(SRRM2):c.2933A>G (p.Lys978Arg)
NM_016333.4(SRRM2):c.3006A>T (p.Gln1002His)
NM_016333.4(SRRM2):c.3015G>A (p.Pro1005=)
NM_016333.4(SRRM2):c.3040T>G (p.Ser1014Ala)
NM_016333.4(SRRM2):c.3100T>C (p.Ser1034Pro)
NM_016333.4(SRRM2):c.3311C>T (p.Pro1104Leu)
NM_016333.4(SRRM2):c.3350A>G (p.Asp1117Gly)
NM_016333.4(SRRM2):c.3439A>T (p.Thr1147Ser)
NM_016333.4(SRRM2):c.3455C>T (p.Ser1152Phe)
NM_016333.4(SRRM2):c.3523G>C (p.Asp1175His)
NM_016333.4(SRRM2):c.3593C>T (p.Ser1198Phe)
NM_016333.4(SRRM2):c.3752A>G (p.Gln1251Arg)
NM_016333.4(SRRM2):c.3874T>G (p.Ser1292Ala)
NM_016333.4(SRRM2):c.3970G>A (p.Glu1324Lys)
NM_016333.4(SRRM2):c.3979T>C (p.Phe1327Leu)
NM_016333.4(SRRM2):c.3981T>C (p.Phe1327=)
NM_016333.4(SRRM2):c.4043C>T (p.Ser1348Phe)
NM_016333.4(SRRM2):c.4046C>A (p.Ser1349Tyr)
NM_016333.4(SRRM2):c.4078C>T (p.Leu1360Phe)
NM_016333.4(SRRM2):c.4115A>G (p.Lys1372Arg)
NM_016333.4(SRRM2):c.4129_4131del (p.Arg1377del)
NM_016333.4(SRRM2):c.4256G>C (p.Ser1419Thr)
NM_016333.4(SRRM2):c.4285G>A (p.Asp1429Asn)
NM_016333.4(SRRM2):c.4382G>T (p.Gly1461Val)
NM_016333.4(SRRM2):c.4411A>G (p.Arg1471Gly)
NM_016333.4(SRRM2):c.4548A>C (p.Arg1516Ser)
NM_016333.4(SRRM2):c.4558G>C (p.Glu1520Gln)
NM_016333.4(SRRM2):c.4579A>G (p.Thr1527Ala)
NM_016333.4(SRRM2):c.4661A>G (p.Gln1554Arg)
NM_016333.4(SRRM2):c.4663G>A (p.Glu1555Lys)
NM_016333.4(SRRM2):c.4727G>A (p.Arg1576Lys)
NM_016333.4(SRRM2):c.4766C>T (p.Ser1589Phe)
NM_016333.4(SRRM2):c.4791G>T (p.Arg1597Ser)
NM_016333.4(SRRM2):c.4793C>T (p.Ser1598Phe)
NM_016333.4(SRRM2):c.4798T>G (p.Ser1600Ala)
NM_016333.4(SRRM2):c.4835C>G (p.Pro1612Arg)
NM_016333.4(SRRM2):c.4871C>G (p.Pro1624Arg)
NM_016333.4(SRRM2):c.4892C>G (p.Ala1631Gly)
NM_016333.4(SRRM2):c.4894C>A (p.Leu1632Ile)
NM_016333.4(SRRM2):c.4978G>C (p.Glu1660Gln)
NM_016333.4(SRRM2):c.5122C>A (p.Arg1708Ser)
NM_016333.4(SRRM2):c.5131T>A (p.Ser1711Thr)
NM_016333.4(SRRM2):c.5204C>G (p.Pro1735Arg)
NM_016333.4(SRRM2):c.5225C>G (p.Ser1742Ter)
NM_016333.4(SRRM2):c.5230C>T (p.Arg1744Ter)
NM_016333.4(SRRM2):c.5255G>C (p.Arg1752Pro) rs114848780
NM_016333.4(SRRM2):c.5267C>T (p.Thr1756Ile)
NM_016333.4(SRRM2):c.5289_5291del (p.Ser1764del)
NM_016333.4(SRRM2):c.5534C>G (p.Pro1845Arg)
NM_016333.4(SRRM2):c.5581T>G (p.Trp1861Gly)
NM_016333.4(SRRM2):c.5623C>T (p.Arg1875Ter)
NM_016333.4(SRRM2):c.5639C>G (p.Thr1880Ser)
NM_016333.4(SRRM2):c.5746T>A (p.Ser1916Thr)
NM_016333.4(SRRM2):c.5782C>T (p.Pro1928Ser)
NM_016333.4(SRRM2):c.5840G>C (p.Arg1947Pro)
NM_016333.4(SRRM2):c.5849C>G (p.Thr1950Ser)
NM_016333.4(SRRM2):c.5885C>T (p.Thr1962Ile)
NM_016333.4(SRRM2):c.5912G>A (p.Arg1971Gln)
NM_016333.4(SRRM2):c.5928T>C (p.Pro1976=)
NM_016333.4(SRRM2):c.6020G>A (p.Arg2007His)
NM_016333.4(SRRM2):c.6079C>G (p.Arg2027Gly)
NM_016333.4(SRRM2):c.608G>C (p.Ser203Thr)
NM_016333.4(SRRM2):c.6098G>C (p.Arg2033Pro) rs117133016
NM_016333.4(SRRM2):c.6173C>G (p.Thr2058Ser)
NM_016333.4(SRRM2):c.6181A>G (p.Thr2061Ala)
NM_016333.4(SRRM2):c.6209G>T (p.Arg2070Ile)
NM_016333.4(SRRM2):c.6319G>T (p.Val2107Leu)
NM_016333.4(SRRM2):c.6427A>G (p.Arg2143Gly)
NM_016333.4(SRRM2):c.6499C>A (p.His2167Asn)
NM_016333.4(SRRM2):c.654C>G (p.His218Gln)
NM_016333.4(SRRM2):c.657-1G>C
NM_016333.4(SRRM2):c.6687C>T (p.Ala2229=)
NM_016333.4(SRRM2):c.6774C>G (p.Asp2258Glu)
NM_016333.4(SRRM2):c.6780_6863del (p.Ala2263_Pro2290del)
NM_016333.4(SRRM2):c.679C>T (p.Arg227Cys)
NM_016333.4(SRRM2):c.6884T>C (p.Val2295Ala) rs1596290635
NM_016333.4(SRRM2):c.6908C>G (p.Pro2303Arg)
NM_016333.4(SRRM2):c.6908C>T (p.Pro2303Leu)
NM_016333.4(SRRM2):c.6918G>C (p.Leu2306Phe)
NM_016333.4(SRRM2):c.6928A>C (p.Ser2310Arg)
NM_016333.4(SRRM2):c.6950C>T (p.Pro2317Leu)
NM_016333.4(SRRM2):c.6955A>C (p.Thr2319Pro)
NM_016333.4(SRRM2):c.6981C>T (p.Ser2327=)
NM_016333.4(SRRM2):c.7016T>C (p.Val2339Ala)
NM_016333.4(SRRM2):c.7058C>T (p.Ala2353Val)
NM_016333.4(SRRM2):c.706A>G (p.Ser236Gly)
NM_016333.4(SRRM2):c.7071C>T (p.Thr2357=)
NM_016333.4(SRRM2):c.7092G>A (p.Ala2364=)
NM_016333.4(SRRM2):c.7093A>C (p.Ser2365Arg)
NM_016333.4(SRRM2):c.7130G>A (p.Gly2377Asp)
NM_016333.4(SRRM2):c.7194ACC[1] (p.Pro2400del)
NM_016333.4(SRRM2):c.7199C>T (p.Pro2400Leu)
NM_016333.4(SRRM2):c.7277C>T (p.Ser2426Phe)
NM_016333.4(SRRM2):c.7319_7321del (p.Leu2440del)
NM_016333.4(SRRM2):c.7393C>G (p.Gln2465Glu)
NM_016333.4(SRRM2):c.7430C>G (p.Ser2477Cys)
NM_016333.4(SRRM2):c.745C>G (p.Arg249Gly)
NM_016333.4(SRRM2):c.7582A>G (p.Lys2528Glu)
NM_016333.4(SRRM2):c.7638ATC[1] (p.Ser2556del)
NM_016333.4(SRRM2):c.7735G>A (p.Val2579Ile)
NM_016333.4(SRRM2):c.7742G>T (p.Ser2581Ile)
NM_016333.4(SRRM2):c.7748_7758del (p.Thr2583fs)
NM_016333.4(SRRM2):c.7771C>T (p.Arg2591Ter)
NM_016333.4(SRRM2):c.7857CTC[6] (p.Ser2648del) rs531076704
NM_016333.4(SRRM2):c.7892C>T (p.Ser2631Phe)
NM_016333.4(SRRM2):c.7899TTC[3] (p.Ser2648del)
NM_016333.4(SRRM2):c.7926C>T (p.Ser2642=)
NM_016333.4(SRRM2):c.7932G>C (p.Ser2644=)
NM_016333.4(SRRM2):c.7935G>A (p.Ser2645=) rs138907366
NM_016333.4(SRRM2):c.7946C>T (p.Pro2649Leu)
NM_016333.4(SRRM2):c.794CTG[1] (p.Ala266del) rs144900093
NM_016333.4(SRRM2):c.7979C>A (p.Pro2660His)
NM_016333.4(SRRM2):c.8063C>G (p.Ser2688Cys)
NM_016333.4(SRRM2):c.8086G>A (p.Val2696Met)
NM_016333.4(SRRM2):c.80G>C (p.Arg27Pro)
NM_016333.4(SRRM2):c.8103del (p.Ser2702fs)
NM_016333.4(SRRM2):c.812C>G (p.Ser271Cys)
NM_016333.4(SRRM2):c.8225_8234dup (p.His2746fs)
NM_016333.4(SRRM2):c.8226del (p.Pro2743_Met2744insTer)
NM_016333.4(SRRM2):c.8246C>T (p.Ser2749Phe)
NM_016333.4(SRRM2):c.8249G>T (p.Arg2750Met)
NM_016333.4(SRRM2):c.829A>T (p.Ser277Cys)
NM_016333.4(SRRM2):c.85del (p.Arg29fs)
NM_016333.4(SRRM2):c.877G>A (p.Gly293Arg)
NM_016333.4(SRRM2):c.911G>T (p.Gly304Val)
NM_016333.4(SRRM2):c.924G>A (p.Ala308=)

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