List of variants in gene combination ALMS1, LOC126806252 reported as uncertain significance by GeneDx

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: 36

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HGVS	dbSNP	gnomAD frequency
NM_001378454.1(ALMS1):c.12004C>T (p.Arg4002Trp)	rs200897773	0.00040
NM_001378454.1(ALMS1):c.11939C>T (p.Thr3980Ile)	rs200568988	0.00032
NM_001378454.1(ALMS1):c.12044G>A (p.Gly4015Asp)	rs200462734	0.00022
NM_001378454.1(ALMS1):c.11953A>G (p.Ile3985Val)	rs201728850	0.00015
NM_001378454.1(ALMS1):c.12151C>T (p.Arg4051Cys)	rs201874056	0.00011
NM_001378454.1(ALMS1):c.12251G>T (p.Arg4084Met)	rs375314465	0.00011
NM_001378454.1(ALMS1):c.12086T>C (p.Leu4029Pro)	rs372910832	0.00010
NM_001378454.1(ALMS1):c.11971A>G (p.Ile3991Val)	rs368146962	0.00008
NM_001378454.1(ALMS1):c.11968C>G (p.Pro3990Ala)	rs189851617	0.00006
NM_001378454.1(ALMS1):c.12093A>G (p.Pro4031=)	rs758682688	0.00006
NM_001378454.1(ALMS1):c.12037G>A (p.Gly4013Ser)	rs541576664	0.00004
NM_001378454.1(ALMS1):c.12223G>A (p.Glu4075Lys)	rs374220893	0.00004
NM_001378454.1(ALMS1):c.12275G>A (p.Arg4092His)	rs748624161	0.00004
NM_001378454.1(ALMS1):c.12284C>T (p.Pro4095Leu)	rs750502331	0.00004
NM_001378454.1(ALMS1):c.11994G>C (p.Arg3998Ser)	rs28730862	0.00003
NM_001378454.1(ALMS1):c.12152G>A (p.Arg4051His)	rs750598025	0.00003
NM_001378454.1(ALMS1):c.12040C>T (p.Arg4014Trp)	rs543346172	0.00002
NM_001378454.1(ALMS1):c.12172C>T (p.Arg4058Cys)	rs1270753573	0.00002
NM_001378454.1(ALMS1):c.12226C>T (p.Arg4076Trp)	rs368113488	0.00002
NM_001378454.1(ALMS1):c.12227G>A (p.Arg4076Gln)	rs200814417	0.00002
NM_001378454.1(ALMS1):c.12074G>A (p.Gly4025Asp)	rs199989044	0.00001
NM_001378454.1(ALMS1):c.12108C>G (p.Thr4036=)	rs767174517	0.00001
NM_001378454.1(ALMS1):c.12113A>G (p.Gln4038Arg)	rs1057524132	0.00001
NM_001378454.1(ALMS1):c.12164G>A (p.Arg4055Gln)	rs752714698	0.00001
NM_001378454.1(ALMS1):c.11873-8T>G	rs2104195252
NM_001378454.1(ALMS1):c.11887G>C (p.Val3963Leu)
NM_001378454.1(ALMS1):c.11928C>A (p.Asn3976Lys)	rs571782143
NM_001378454.1(ALMS1):c.11948C>T (p.Pro3983Leu)	rs754031448
NM_001378454.1(ALMS1):c.12030C>G (p.His4010Gln)	rs2466522772
NM_001378454.1(ALMS1):c.12036C>A (p.Asp4012Glu)	rs370981817
NM_001378454.1(ALMS1):c.12202C>G (p.Leu4068Val)
NM_001378454.1(ALMS1):c.12217_12221delinsAAGAG (p.Gln4073_Thr4074delinsLysSer)
NM_001378454.1(ALMS1):c.12219G>T (p.Gln4073His)	rs878854996
NM_001378454.1(ALMS1):c.12238T>C (p.Phe4080Leu)	rs2104200019
NM_001378454.1(ALMS1):c.12250A>G (p.Arg4084Gly)	rs2104200104
NM_001378454.1(ALMS1):c.12275G>T (p.Arg4092Leu)	rs748624161

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