ClinVar Miner

List of variants in gene ALMS1 reported as pathogenic for abdominal and pelvic region disorder

Included ClinVar conditions (891):
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Gene type:
ClinVar version:
Total variants: 62
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HGVS dbSNP
ALMS1, 19-BP INS
ALMS1, 333-BP ALU INS, EX16
NM_015120.4(ALMS1):c.10303delCinsGA (p.Gln3435Glufs) rs1060500034
NM_015120.4(ALMS1):c.10483C>T (p.Gln3495Ter) rs772624348
NM_015120.4(ALMS1):c.1054C>T (p.Arg352Ter) rs1275113273
NM_015120.4(ALMS1):c.10775delC (p.Thr3592Lysfs) rs387906312
NM_015120.4(ALMS1):c.10790_10791delTG (p.Val3597Glufs) rs1218465638
NM_015120.4(ALMS1):c.10831_10832delAG (p.Arg3611Alafs) rs755616266
NM_015120.4(ALMS1):c.10885C>T (p.Arg3629Ter) rs1473611414
NM_015120.4(ALMS1):c.10945G>T (p.Glu3649Ter) rs397514576
NM_015120.4(ALMS1):c.10992G>A (p.Trp3664Ter) rs193919339
NM_015120.4(ALMS1):c.11116_11134del19 (p.Arg3706Leufs) rs398122992
NM_015120.4(ALMS1):c.11207C>A (p.Ser3736Ter) rs367877017
NM_015120.4(ALMS1):c.11316_11319delAGAG (p.Glu3773Trpfs) rs747272625
NM_015120.4(ALMS1):c.11385delT (p.Phe3795Leufs) rs768759374
NM_015120.4(ALMS1):c.11423_11427delAATTA (p.Lys3808Ilefs) rs1553418609
NM_015120.4(ALMS1):c.11618_11619delCT (p.Ser3873Tyrfs) rs1476205467
NM_015120.4(ALMS1):c.11651_11652insGTTA (p.Asn3885Leufs) rs760264695
NM_015120.4(ALMS1):c.11787G>A (p.Trp3929Ter) rs1318520999
NM_015120.4(ALMS1):c.1794_1801dupGGCTTTGA (p.Lys601Argfs) rs398122991
NM_015120.4(ALMS1):c.1819G>T (p.Gly607Ter) rs1553403321
NM_015120.4(ALMS1):c.1900C>T (p.Gln634Ter) rs398122995
NM_015120.4(ALMS1):c.2141_2142delCT (p.Ser714Tyrfs) rs387906313
NM_015120.4(ALMS1):c.2822T>A (p.Leu941Ter) rs539612316
NM_015120.4(ALMS1):c.3019dup (p.Arg1007Lysfs) rs878854998
NM_015120.4(ALMS1):c.3300_3301del (p.Lys1103Alafs) rs1553403653
NM_015120.4(ALMS1):c.358C>T (p.Gln120Ter) rs751804613
NM_015120.4(ALMS1):c.363_366dupAGTA (p.Tyr123Serfs) rs753301358
NM_015120.4(ALMS1):c.4156dupA (p.Thr1386Asnfs) rs797045228
NM_015120.4(ALMS1):c.4183C>T (p.Gln1395Ter) rs969786171
NM_015120.4(ALMS1):c.4296_4299delCACA (p.His1432Glnfs) rs398122993
NM_015120.4(ALMS1):c.4393C>T (p.Gln1465Ter) rs904289501
NM_015120.4(ALMS1):c.4648dup (p.Arg1550Lysfs) rs1553403917
NM_015120.4(ALMS1):c.4917_4920delTAAA (p.Asn1639Lysfs) rs779366889
NM_015120.4(ALMS1):c.5145T>G (p.Tyr1715Ter) rs772136379
NM_015120.4(ALMS1):c.5200C>T (p.Gln1734Ter) rs750136202
NM_015120.4(ALMS1):c.5590C>T (p.Gln1864Ter) rs769440001
NM_015120.4(ALMS1):c.5630dup (p.Gly1878Argfs) rs1553404109
NM_015120.4(ALMS1):c.563dup (p.Ser190Leufs) rs1439541639
NM_015120.4(ALMS1):c.5926delG (p.Glu1976Serfs) rs398122994
NM_015120.4(ALMS1):c.6169_6170dup (p.Leu2058Phefs) rs759603306
NM_015120.4(ALMS1):c.6375delT (p.Pro2126Leufs) rs1553404220
NM_015120.4(ALMS1):c.6411_6412insCCTA (p.Ala2138Profs) rs1553404233
NM_015120.4(ALMS1):c.6436C>T (p.Arg2146Ter) rs770558150
NM_015120.4(ALMS1):c.6571_6574delTCAC (p.Ser2191Metfs) rs1034630858
NM_015120.4(ALMS1):c.6590delA (p.Lys2197Serfs) rs1553404283
NM_015120.4(ALMS1):c.6850dup (p.Leu2284Profs)
NM_015120.4(ALMS1):c.7090delC (p.Leu2364Tyrfs) rs1553404395
NM_015120.4(ALMS1):c.7247C>A (p.Ser2416Ter) rs1060500039
NM_015120.4(ALMS1):c.7304_7305delAG (p.Glu2435Valfs) rs1246023978
NM_015120.4(ALMS1):c.7316C>A (p.Ser2439Ter)
NM_015120.4(ALMS1):c.7375_7376delGA (p.Asp2459Terfs) rs1225343345
NM_015120.4(ALMS1):c.7677+1G>A rs1417025395
NM_015120.4(ALMS1):c.8008C>T (p.Arg2670Ter) rs549857076
NM_015120.4(ALMS1):c.8164C>T (p.Arg2722Ter) rs193919340
NM_015120.4(ALMS1):c.8383C>T (p.Gln2795Ter) rs193919338
NM_015120.4(ALMS1):c.8394dup (p.Leu2799Ilefs) rs1553409715
NM_015120.4(ALMS1):c.9116delC (p.Pro3039Leufs) rs1425609364
NM_015120.4(ALMS1):c.9422_9423delAG (p.Gln3141Argfs)
NM_015120.4(ALMS1):c.9433dup (p.Thr3145Asnfs) rs878855003
NM_015120.4(ALMS1):c.9541C>T (p.Arg3181Ter)
NM_015120.4(ALMS1):c.[3902C>A];[6436C>T]

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