List of variants in gene ALMS1 studied for Bardet-Biedl syndrome

Minimum submission review status:		Collection method:
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Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 5

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HGVS	dbSNP	gnomAD frequency
GRCh37/hg19 2p13.1(chr2:73617393-73789869)
NM_001378454.1(ALMS1):c.10234G>T (p.Ala3412Ser)	rs1454233838
NM_001378454.1(ALMS1):c.10882C>T (p.Arg3628Ter)	rs1473611414
NM_001378454.1(ALMS1):c.4375C>T (p.Pro1459Ser)
NM_001378454.1(ALMS1):c.7580dup (p.Tyr2527Ter)	rs1672034468

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