List of variants in gene combination ALMS1, LOC126806252 reported as likely benign for autosomal recessive disease

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 109

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HGVS	dbSNP	gnomAD frequency
NM_001378454.1(ALMS1):c.11953A>G (p.Ile3985Val)	rs201728850	0.00014
NM_001378454.1(ALMS1):c.12298+14G>A	rs755931726	0.00010
NM_001378454.1(ALMS1):c.12036C>T (p.Asp4012=)	rs370981817	0.00006
NM_001378454.1(ALMS1):c.12093A>G (p.Pro4031=)	rs758682688	0.00006
NM_001378454.1(ALMS1):c.12222C>T (p.Thr4074=)	rs199638718	0.00006
NM_001378454.1(ALMS1):c.11928C>T (p.Asn3976=)	rs571782143	0.00004
NM_001378454.1(ALMS1):c.12054A>G (p.Ala4018=)	rs998039859	0.00004
NM_001378454.1(ALMS1):c.12120G>A (p.Ser4040=)	rs764462322	0.00004
NM_001378454.1(ALMS1):c.12174C>T (p.Arg4058=)	rs377661858	0.00004
NM_001378454.1(ALMS1):c.12285G>A (p.Pro4095=)	rs776912137	0.00004
NM_001378454.1(ALMS1):c.12147C>T (p.Ile4049=)	rs374328093	0.00003
NM_001378454.1(ALMS1):c.12165G>A (p.Arg4055=)	rs758365496	0.00003
NM_001378454.1(ALMS1):c.12198G>A (p.Arg4066=)	rs199603690	0.00003
NM_001378454.1(ALMS1):c.12024G>A (p.Gly4008=)	rs758602294	0.00002
NM_001378454.1(ALMS1):c.12126G>A (p.Gln4042=)	rs763332177	0.00002
NM_001378454.1(ALMS1):c.11873-11G>A	rs571456553	0.00001
NM_001378454.1(ALMS1):c.11931G>A (p.Val3977=)	rs755392274	0.00001
NM_001378454.1(ALMS1):c.11937C>T (p.Asn3979=)	rs1204975430	0.00001
NM_001378454.1(ALMS1):c.11997G>A (p.Glu3999=)	rs756694050	0.00001
NM_001378454.1(ALMS1):c.12027G>A (p.Gln4009=)	rs1406016543	0.00001
NM_001378454.1(ALMS1):c.12108C>G (p.Thr4036=)	rs767174517	0.00001
NM_001378454.1(ALMS1):c.12114+11G>A	rs771751866	0.00001
NM_001378454.1(ALMS1):c.12114+12T>C	rs377393930	0.00001
NM_001378454.1(ALMS1):c.12115-16T>C	rs746685261	0.00001
NM_001378454.1(ALMS1):c.12216A>G (p.Leu4072=)	rs769083768	0.00001
NM_001378454.1(ALMS1):c.12237A>G (p.Leu4079=)	rs780806925	0.00001
NM_001378454.1(ALMS1):c.12282C>T (p.Cys4094=)	rs760968067	0.00001
NM_001378454.1(ALMS1):c.12298+13C>T	rs202064010	0.00001
NM_001378454.1(ALMS1):c.12298+7C>T	rs1252100215	0.00001
NM_001378454.1(ALMS1):c.11873-10T>A	rs1022167078
NM_001378454.1(ALMS1):c.11873-11G>T	rs571456553
NM_001378454.1(ALMS1):c.11873-12_11873-11inv
NM_001378454.1(ALMS1):c.11873-18A>G
NM_001378454.1(ALMS1):c.11873-4G>A	rs1553421697
NM_001378454.1(ALMS1):c.11877T>C (p.Val3959=)	rs538785825
NM_001378454.1(ALMS1):c.11889T>G (p.Val3963=)
NM_001378454.1(ALMS1):c.11901T>C (p.Asn3967=)
NM_001378454.1(ALMS1):c.11910T>C (p.Ser3970=)	rs2104195553
NM_001378454.1(ALMS1):c.11934T>C (p.Pro3978=)	rs748382663
NM_001378454.1(ALMS1):c.11940T>A (p.Thr3980=)	rs1675679219
NM_001378454.1(ALMS1):c.11940T>C (p.Thr3980=)	rs1675679219
NM_001378454.1(ALMS1):c.11940T>G (p.Thr3980=)	rs1675679219
NM_001378454.1(ALMS1):c.11952C>A (p.Gly3984=)
NM_001378454.1(ALMS1):c.11955C>T (p.Ile3985=)	rs2104195791
NM_001378454.1(ALMS1):c.11958C>T (p.Ser3986=)	rs1292184685
NM_001378454.1(ALMS1):c.11970A>G (p.Pro3990=)
NM_001378454.1(ALMS1):c.11976C>G (p.Thr3992=)
NM_001378454.1(ALMS1):c.11994G>A (p.Arg3998=)	rs28730862
NM_001378454.1(ALMS1):c.12000A>G (p.Pro4000=)	rs2104196057
NM_001378454.1(ALMS1):c.12006G>A (p.Arg4002=)	rs1573054242
NM_001378454.1(ALMS1):c.12031C>T (p.Leu4011=)	rs1675682314
NM_001378454.1(ALMS1):c.12042G>A (p.Arg4014=)	rs1320090019
NM_001378454.1(ALMS1):c.12045C>A (p.Gly4015=)	rs1675682957
NM_001378454.1(ALMS1):c.12045C>T (p.Gly4015=)
NM_001378454.1(ALMS1):c.12048C>T (p.Tyr4016=)	rs2104196274
NM_001378454.1(ALMS1):c.12051G>T (p.Leu4017=)
NM_001378454.1(ALMS1):c.12057C>T (p.Gly4019=)
NM_001378454.1(ALMS1):c.12063C>A (p.Gly4021=)	rs772994859
NM_001378454.1(ALMS1):c.12084A>G (p.Leu4028=)	rs1429155585
NM_001378454.1(ALMS1):c.12087G>A (p.Leu4029=)	rs2104196487
NM_001378454.1(ALMS1):c.12089_12090delinsAA (p.Arg4030Lys)
NM_001378454.1(ALMS1):c.12105A>C (p.Ala4035=)	rs2104196632
NM_001378454.1(ALMS1):c.12108C>T (p.Thr4036=)
NM_001378454.1(ALMS1):c.12111T>G (p.Leu4037=)
NM_001378454.1(ALMS1):c.12114+10C>G
NM_001378454.1(ALMS1):c.12114+10C>T
NM_001378454.1(ALMS1):c.12114+14G>C
NM_001378454.1(ALMS1):c.12114+14G>T	rs1057524070
NM_001378454.1(ALMS1):c.12114+17T>C	rs1675686732
NM_001378454.1(ALMS1):c.12114+19A>G	rs760374917
NM_001378454.1(ALMS1):c.12114+19A>T	rs760374917
NM_001378454.1(ALMS1):c.12114+19_12114+23dup
NM_001378454.1(ALMS1):c.12114+20A>G	rs1178865207
NM_001378454.1(ALMS1):c.12114+20del
NM_001378454.1(ALMS1):c.12114+5_12114+66dup	rs1558711954
NM_001378454.1(ALMS1):c.12115-13T>A
NM_001378454.1(ALMS1):c.12115-15T>C
NM_001378454.1(ALMS1):c.12115-17T>A
NM_001378454.1(ALMS1):c.12115-17_12115-16insCTCTCTCTCTTTT
NM_001378454.1(ALMS1):c.12115-18C>T
NM_001378454.1(ALMS1):c.12115-18_12115-17del	rs781270096
NM_001378454.1(ALMS1):c.12115-4T>A	rs2104199349
NM_001378454.1(ALMS1):c.12115-4T>G
NM_001378454.1(ALMS1):c.12115-5T>C
NM_001378454.1(ALMS1):c.12115-7C>T	rs759139781
NM_001378454.1(ALMS1):c.12115-8dup	rs748193431
NM_001378454.1(ALMS1):c.12115-9T>C
NM_001378454.1(ALMS1):c.12120G>C (p.Ser4040=)
NM_001378454.1(ALMS1):c.12144C>T (p.Phe4048=)	rs2104199469
NM_001378454.1(ALMS1):c.12150C>A (p.Ser4050=)	rs1553421877
NM_001378454.1(ALMS1):c.12177G>T (p.Leu4059=)	rs1573055527
NM_001378454.1(ALMS1):c.12183A>G (p.Leu4061=)	rs2104199708
NM_001378454.1(ALMS1):c.12204G>A (p.Leu4068=)
NM_001378454.1(ALMS1):c.12222C>A (p.Thr4074=)	rs199638718
NM_001378454.1(ALMS1):c.12225G>A (p.Glu4075=)
NM_001378454.1(ALMS1):c.12234A>C (p.Ala4078=)	rs374508659
NM_001378454.1(ALMS1):c.12234A>G (p.Ala4078=)	rs374508659
NM_001378454.1(ALMS1):c.12264C>A (p.Gly4088=)
NM_001378454.1(ALMS1):c.12285G>T (p.Pro4095=)	rs776912137
NM_001378454.1(ALMS1):c.12288G>A (p.Leu4096=)	rs1266824471
NM_001378454.1(ALMS1):c.12291C>T (p.Pro4097=)	rs1465822932
NM_001378454.1(ALMS1):c.12298+10G>A	rs767356429
NM_001378454.1(ALMS1):c.12298+10G>T	rs767356429
NM_001378454.1(ALMS1):c.12298+11C>T	rs2104200410
NM_001378454.1(ALMS1):c.12298+13del
NM_001378454.1(ALMS1):c.12298+19C>T	rs1553421935
NM_001378454.1(ALMS1):c.12298+22del
NM_001378454.1(ALMS1):c.12298+8C>G	rs2104200394
NM_001378454.1(ALMS1):c.12298+8C>T

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