List of variants in gene ALMS1 studied for congenital nervous system disorder

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 10

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HGVS	dbSNP	gnomAD frequency
NM_001378454.1(ALMS1):c.10816C>T (p.Arg3606Trp)	rs1250097723	0.00001
NM_001378454.1(ALMS1):c.5142T>G (p.Tyr1714Ter)	rs772136379	0.00001
NM_001378454.1(ALMS1):c.3149dup (p.Tyr1050Ter)	rs1671886130
NM_001378454.1(ALMS1):c.3345dup (p.Leu1116fs)	rs2103778571
NM_001378454.1(ALMS1):c.4244del (p.Gly1415fs)	rs2103781993
NM_001378454.1(ALMS1):c.5173dup (p.Ala1725fs)	rs1671943905
NM_001378454.1(ALMS1):c.7367_7370del (p.Ile2456fs)	rs2103793713
NM_001378454.1(ALMS1):c.7879_7880insACAG (p.Val2627fs)	rs2103889898
NM_001378454.1(ALMS1):c.8725C>T (p.Gln2909Ter)	rs1188328539
NM_015120.4(ALMS1):c.1241_1341del	rs1671380508

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