ClinVar Miner

List of variants in gene KCNH5 reported as benign by Invitae

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Gene type:
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Total variants: 70
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HGVS dbSNP gnomAD frequency
NM_139318.5(KCNH5):c.2577A>G (p.Arg859=) rs7161127 0.93044
NM_139318.5(KCNH5):c.1570-18A>G rs12588427 0.38324
NM_139318.5(KCNH5):c.549+17T>C rs1950975 0.35828
NM_139318.5(KCNH5):c.2233G>A (p.Ala745Thr) rs4902176 0.30330
NM_139318.5(KCNH5):c.2577= (p.Arg859=) rs7161127 0.06956
NM_139318.5(KCNH5):c.2088G>A (p.Val696=) rs36004050 0.02985
NM_139318.5(KCNH5):c.1369+7A>G rs79489451 0.00818
NM_139318.5(KCNH5):c.775C>T (p.Leu259=) rs142666361 0.00262
NM_139318.5(KCNH5):c.2315A>G (p.Glu772Gly) rs79913182 0.00188
NM_139318.5(KCNH5):c.819C>T (p.Pro273=) rs115017019 0.00177
NM_139318.5(KCNH5):c.1620A>G (p.Leu540=) rs115435938 0.00096
NM_139318.5(KCNH5):c.351A>G (p.Glu117=) rs116027402 0.00083
NM_139318.5(KCNH5):c.1098A>G (p.Ile366Met) rs146883958 0.00082
NM_139318.5(KCNH5):c.2826G>C (p.Leu942=) rs150366779 0.00065
NM_139318.5(KCNH5):c.2652G>A (p.Pro884=) rs143147156 0.00061
NM_139318.5(KCNH5):c.943-18T>G rs541748886 0.00043
NM_139318.5(KCNH5):c.1970C>G (p.Ala657Gly) rs143775193 0.00041
NM_139318.5(KCNH5):c.1960A>G (p.Thr654Ala) rs199774231 0.00030
NM_139318.5(KCNH5):c.736G>T (p.Ala246Ser) rs114447363 0.00021
NM_139318.5(KCNH5):c.1579A>T (p.Ile527Phe) rs149561461 0.00013
NM_139318.5(KCNH5):c.224A>G (p.Lys75Arg) rs557868420 0.00012
NM_139318.5(KCNH5):c.2456G>T (p.Gly819Val) rs373106772 0.00004
NM_139318.5(KCNH5):c.501G>A (p.Thr167=) rs200714977 0.00004
NM_139318.5(KCNH5):c.1201C>T (p.Arg401Cys) rs753034623 0.00003
NM_139318.5(KCNH5):c.2215C>T (p.Arg739Cys) rs372185345 0.00003
NM_139318.5(KCNH5):c.1436A>G (p.Asn479Ser) rs1887768573 0.00002
NM_139318.5(KCNH5):c.2557G>A (p.Val853Met) rs140331213 0.00002
NM_139318.5(KCNH5):c.766G>A (p.Val256Ile) rs756506083 0.00002
NM_139318.5(KCNH5):c.1202G>A (p.Arg401His) rs1461051682 0.00001
NM_139318.5(KCNH5):c.1513G>A (p.Val505Ile) rs1480621890 0.00001
NM_139318.5(KCNH5):c.15G>C (p.Lys5Asn) rs775719605 0.00001
NM_139318.5(KCNH5):c.1822+18A>C rs572126581 0.00001
NM_139318.5(KCNH5):c.1847T>A (p.Ile616Asn) rs753938626 0.00001
NM_139318.5(KCNH5):c.195C>T (p.Cys65=) rs552906500 0.00001
NM_139318.5(KCNH5):c.2152G>C (p.Glu718Gln) rs1308657380 0.00001
NM_139318.5(KCNH5):c.2242A>G (p.Thr748Ala) rs751206598 0.00001
NM_139318.5(KCNH5):c.2335C>T (p.Arg779Cys) rs200292403 0.00001
NM_139318.5(KCNH5):c.2447A>G (p.Asn816Ser) rs756083906 0.00001
NM_139318.5(KCNH5):c.2631G>A (p.Lys877=) rs759173309 0.00001
NM_139318.5(KCNH5):c.1362G>A (p.Met454Ile) rs2140130309
NM_139318.5(KCNH5):c.1680C>A (p.Arg560=) rs114074278
NM_139318.5(KCNH5):c.1802A>G (p.Asp601Gly) rs2139999949
NM_139318.5(KCNH5):c.1823-5del rs1367114879
NM_139318.5(KCNH5):c.197+6T>G rs2139607542
NM_139318.5(KCNH5):c.198-10del rs36103415
NM_139318.5(KCNH5):c.198-17dup rs36103415
NM_139318.5(KCNH5):c.198-9dup rs752865520
NM_139318.5(KCNH5):c.2171C>T (p.Ser724Leu)
NM_139318.5(KCNH5):c.2242A>T (p.Thr748Ser) rs751206598
NM_139318.5(KCNH5):c.2252G>A (p.Ser751Asn) rs1163598482
NM_139318.5(KCNH5):c.2254G>A (p.Val752Met)
NM_139318.5(KCNH5):c.2335C>A (p.Arg779Ser) rs200292403
NM_139318.5(KCNH5):c.2365G>A (p.Gly789Ser) rs140205536
NM_139318.5(KCNH5):c.2371G>A (p.Asp791Asn)
NM_139318.5(KCNH5):c.2606C>T (p.Thr869Ile)
NM_139318.5(KCNH5):c.2621G>A (p.Arg874His)
NM_139318.5(KCNH5):c.2630A>G (p.Lys877Arg)
NM_139318.5(KCNH5):c.2632G>A (p.Ala878Thr) rs376837885
NM_139318.5(KCNH5):c.2830G>A (p.Glu944Lys) rs1259576590
NM_139318.5(KCNH5):c.2860A>G (p.Lys954Glu) rs1884461774
NM_139318.5(KCNH5):c.2890C>A (p.Gln964Lys) rs753525158
NM_139318.5(KCNH5):c.2948A>G (p.Lys983Arg) rs1271834396
NM_139318.5(KCNH5):c.356A>G (p.Glu119Gly) rs2139591249
NM_139318.5(KCNH5):c.474T>G (p.Asn158Lys) rs1890724757
NM_139318.5(KCNH5):c.6G>T (p.Pro2=) rs141970580
NM_139318.5(KCNH5):c.733A>T (p.Ile245Leu) rs754761406
NM_139318.5(KCNH5):c.74-17dup rs768346675
NM_139318.5(KCNH5):c.787G>A (p.Val263Ile) rs760127525
NM_139318.5(KCNH5):c.894G>C (p.Leu298=) rs142927077
NM_139318.5(KCNH5):c.942+10dup rs769498088

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