ClinVar Miner

List of variants in gene DIAPH1 reported as uncertain significance for not provided

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Gene type:
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Total variants: 124
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HGVS dbSNP gnomAD frequency
NM_005219.5(DIAPH1):c.1736G>A (p.Arg579His) rs182139018 0.00147
NM_005219.5(DIAPH1):c.1423G>A (p.Glu475Lys) rs193036129 0.00123
NM_005219.5(DIAPH1):c.*88C>T rs574596779 0.00056
NM_005219.5(DIAPH1):c.1748C>G (p.Pro583Arg) rs201719002 0.00055
NM_005219.5(DIAPH1):c.3050T>C (p.Met1017Thr) rs376220834 0.00043
NM_005219.5(DIAPH1):c.2224C>G (p.Pro742Ala) rs199749212 0.00036
NM_005219.5(DIAPH1):c.1784T>C (p.Ile595Thr) rs374299911 0.00033
NM_005219.5(DIAPH1):c.343G>A (p.Glu115Lys) rs371994484 0.00017
NM_005219.5(DIAPH1):c.2107C>G (p.Pro703Ala) rs201433617 0.00015
NM_005219.5(DIAPH1):c.3230C>G (p.Pro1077Arg) rs376593325 0.00013
NM_005219.5(DIAPH1):c.-3G>C rs755880347 0.00011
NM_005219.5(DIAPH1):c.259G>A (p.Val87Ile) rs368889655 0.00011
NM_005219.5(DIAPH1):c.3313C>T (p.Arg1105Trp) rs781577050 0.00011
NM_005219.5(DIAPH1):c.1093T>C (p.Phe365Leu) rs750318437 0.00009
NM_005219.5(DIAPH1):c.3051G>A (p.Met1017Ile) rs373275414 0.00009
NM_005219.5(DIAPH1):c.2902C>T (p.Arg968Cys) rs777195456 0.00007
NM_005219.5(DIAPH1):c.217G>A (p.Ala73Thr) rs184081055 0.00006
NM_005219.5(DIAPH1):c.2668A>G (p.Met890Val) rs200251893 0.00005
NM_005219.5(DIAPH1):c.3314G>A (p.Arg1105Gln) rs770668053 0.00005
NM_005219.5(DIAPH1):c.922A>G (p.Ile308Val) rs752555506 0.00005
NM_005219.5(DIAPH1):c.2200G>A (p.Gly734Arg) rs374788809 0.00004
NM_005219.5(DIAPH1):c.2273C>T (p.Pro758Leu) rs762969077 0.00004
NM_005219.5(DIAPH1):c.3809G>A (p.Arg1270His) rs371664456 0.00004
NM_005219.5(DIAPH1):c.2261G>A (p.Gly754Glu) rs565706367 0.00003
NM_005219.5(DIAPH1):c.3467G>A (p.Arg1156Gln) rs764296073 0.00002
NM_005219.5(DIAPH1):c.767T>C (p.Met256Thr) rs532196989 0.00002
NM_005219.5(DIAPH1):c.1201G>C (p.Val401Leu) rs367592859 0.00001
NM_005219.5(DIAPH1):c.1262G>A (p.Arg421Gln) rs754559074 0.00001
NM_005219.5(DIAPH1):c.1271A>G (p.Tyr424Cys) rs895429714 0.00001
NM_005219.5(DIAPH1):c.1339G>A (p.Gly447Arg) rs779687295 0.00001
NM_005219.5(DIAPH1):c.1543G>C (p.Asp515His) rs759051179 0.00001
NM_005219.5(DIAPH1):c.1601A>G (p.Lys534Arg) rs758517099 0.00001
NM_005219.5(DIAPH1):c.1979G>T (p.Gly660Val) rs756837198 0.00001
NM_005219.5(DIAPH1):c.2758T>C (p.Ser920Pro) rs746418816 0.00001
NM_005219.5(DIAPH1):c.2801G>A (p.Arg934Gln) rs758893826 0.00001
NM_005219.5(DIAPH1):c.2813A>G (p.Asn938Ser) rs1040008297 0.00001
NM_005219.5(DIAPH1):c.3425G>A (p.Arg1142Gln) rs200419320 0.00001
NM_005219.5(DIAPH1):c.344A>G (p.Glu115Gly) rs762848470 0.00001
NM_005219.5(DIAPH1):c.3552G>A (p.Glu1184=) rs1455848656 0.00001
NM_005219.5(DIAPH1):c.88G>A (p.Gly30Ser) rs1034109754 0.00001
NM_005219.5(DIAPH1):c.99C>T (p.Gly33=) rs773440011 0.00001
NM_005219.5(DIAPH1):c.*932dup rs550954506
NM_005219.5(DIAPH1):c.1018C>T (p.Arg340Cys) rs754730261
NM_005219.5(DIAPH1):c.1151G>A (p.Arg384His) rs200927557
NM_005219.5(DIAPH1):c.1155G>A (p.Met385Ile)
NM_005219.5(DIAPH1):c.1170T>C (p.Phe390=)
NM_005219.5(DIAPH1):c.1212A>T (p.Ser404=)
NM_005219.5(DIAPH1):c.1287G>A (p.Gln429=) rs748159908
NM_005219.5(DIAPH1):c.1409A>G (p.Asp470Gly) rs1596381822
NM_005219.5(DIAPH1):c.1439A>G (p.Lys480Arg) rs547070097
NM_005219.5(DIAPH1):c.1461+5A>G
NM_005219.5(DIAPH1):c.1512G>C (p.Lys504Asn)
NM_005219.5(DIAPH1):c.1570C>T (p.His524Tyr) rs1453865659
NM_005219.5(DIAPH1):c.1600A>G (p.Lys534Glu)
NM_005219.5(DIAPH1):c.1708A>G (p.Ile570Val) rs886042233
NM_005219.5(DIAPH1):c.1735C>T (p.Arg579Cys)
NM_005219.5(DIAPH1):c.1744G>A (p.Val582Ile)
NM_005219.5(DIAPH1):c.1750C>A (p.Pro584Thr)
NM_005219.5(DIAPH1):c.1769G>A (p.Gly590Asp) rs189809247
NM_005219.5(DIAPH1):c.1769G>T (p.Gly590Val) rs189809247
NM_005219.5(DIAPH1):c.1795C>A (p.Pro599Thr)
NM_005219.5(DIAPH1):c.1821TCC[14] (p.Pro618_Pro620dup) rs3075570
NM_005219.5(DIAPH1):c.1821TCC[6] (p.Pro616_Pro620del) rs3075570
NM_005219.5(DIAPH1):c.1821TCC[7] (p.Pro617_Pro620del) rs3075570
NM_005219.5(DIAPH1):c.1821TCC[8] (p.Pro618_Pro620del) rs3075570
NM_005219.5(DIAPH1):c.1826C>T (p.Pro609Leu)
NM_005219.5(DIAPH1):c.1852_1860dup (p.Pro618_Pro620dup) rs1562320985
NM_005219.5(DIAPH1):c.1854_1859dup (p.Pro619_Pro620dup) rs773918503
NM_005219.5(DIAPH1):c.1856C>T (p.Pro619Leu) rs2154596301
NM_005219.5(DIAPH1):c.1875_1876delinsAC (p.Cys626Arg)
NM_005219.5(DIAPH1):c.1891C>T (p.Pro631Ser)
NM_005219.5(DIAPH1):c.1915A>G (p.Ile639Val) rs781398463
NM_005219.5(DIAPH1):c.1927C>G (p.Pro643Ala)
NM_005219.5(DIAPH1):c.1943A>T (p.Asp648Val)
NM_005219.5(DIAPH1):c.1963C>G (p.Pro655Ala) rs201827139
NM_005219.5(DIAPH1):c.2000CTT[1] (p.Ser668del) rs1323222030
NM_005219.5(DIAPH1):c.2027C>G (p.Pro676Arg)
NM_005219.5(DIAPH1):c.2030C>A (p.Pro677Gln) rs761912885
NM_005219.5(DIAPH1):c.2053G>A (p.Ala685Thr)
NM_005219.5(DIAPH1):c.2054C>T (p.Ala685Val)
NM_005219.5(DIAPH1):c.2099T>A (p.Ile700Asn) rs199830182
NM_005219.5(DIAPH1):c.2140C>A (p.Pro714Thr) rs2099895540
NM_005219.5(DIAPH1):c.2186C>G (p.Pro729Arg)
NM_005219.5(DIAPH1):c.2294T>A (p.Phe765Tyr)
NM_005219.5(DIAPH1):c.2303C>T (p.Thr768Ile)
NM_005219.5(DIAPH1):c.2461G>T (p.Ala821Ser)
NM_005219.5(DIAPH1):c.2492A>G (p.Asp831Gly)
NM_005219.5(DIAPH1):c.2645A>T (p.Asn882Ile) rs750058263
NM_005219.5(DIAPH1):c.2685T>G (p.Ile895Met) rs2154595015
NM_005219.5(DIAPH1):c.2702C>T (p.Pro901Leu)
NM_005219.5(DIAPH1):c.2779A>G (p.Met927Val) rs1277130012
NM_005219.5(DIAPH1):c.2939C>T (p.Thr980Ile)
NM_005219.5(DIAPH1):c.2954A>G (p.Asn985Ser)
NM_005219.5(DIAPH1):c.3054GTT[1] (p.Leu1020del) rs1174667131
NM_005219.5(DIAPH1):c.3078G>C (p.Leu1026Phe)
NM_005219.5(DIAPH1):c.3205G>A (p.Val1069Met)
NM_005219.5(DIAPH1):c.3250G>A (p.Asp1084Asn)
NM_005219.5(DIAPH1):c.3273+6C>G
NM_005219.5(DIAPH1):c.3410A>T (p.Asp1137Val) rs2154594955
NM_005219.5(DIAPH1):c.3424C>T (p.Arg1142Trp) rs1353583066
NM_005219.5(DIAPH1):c.3432G>A (p.Met1144Ile) rs1562282214
NM_005219.5(DIAPH1):c.3464G>A (p.Arg1155Gln)
NM_005219.5(DIAPH1):c.3491G>A (p.Arg1164Gln)
NM_005219.5(DIAPH1):c.352A>T (p.Ile118Phe) rs769174848
NM_005219.5(DIAPH1):c.3590G>A (p.Gly1197Asp) rs1354335913
NM_005219.5(DIAPH1):c.3613G>A (p.Ala1205Thr)
NM_005219.5(DIAPH1):c.3614C>T (p.Ala1205Val) rs1064795207
NM_005219.5(DIAPH1):c.3623C>T (p.Ser1208Leu)
NM_005219.5(DIAPH1):c.369G>C (p.Glu123Asp)
NM_005219.5(DIAPH1):c.3812C>T (p.Ala1271Val) rs2154594795
NM_005219.5(DIAPH1):c.439A>G (p.Met147Val)
NM_005219.5(DIAPH1):c.503T>C (p.Leu168Pro) rs2154596602
NM_005219.5(DIAPH1):c.538G>A (p.Val180Met) rs370495662
NM_005219.5(DIAPH1):c.59_60delinsAA (p.Gly20Glu) rs2154597565
NM_005219.5(DIAPH1):c.621-12T>G
NM_005219.5(DIAPH1):c.634C>T (p.Arg212Trp) rs769781925
NM_005219.5(DIAPH1):c.644A>G (p.His215Arg) rs1064795909
NM_005219.5(DIAPH1):c.655C>T (p.Arg219Cys)
NM_005219.5(DIAPH1):c.658T>C (p.Cys220Arg) rs2154596561
NM_005219.5(DIAPH1):c.745G>C (p.Asp249His)
NM_005219.5(DIAPH1):c.762C>A (p.Asn254Lys) rs2154596504
NM_005219.5(DIAPH1):c.809C>T (p.Pro270Leu)
NM_005219.5(DIAPH1):c.87G>A (p.Ala29=) rs762960433
NM_005219.5(DIAPH1):c.92G>C (p.Gly31Ala)

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