List of variants in gene BBS10 studied for Bardet-Biedl syndrome 1

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Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_024685.4(BBS10):c.424G>A (p.Asp142Asn)	rs142863601	0.00738
NM_024685.4(BBS10):c.765G>A (p.Met255Ile)	rs139658279	0.00072
NM_024685.4(BBS10):c.145C>T (p.Arg49Trp)	rs768933093	0.00005
NM_024685.4(BBS10):c.273C>G (p.Cys91Trp)	rs148374859	0.00004
NM_024685.4(BBS10):c.164T>C (p.Leu55Pro)	rs1460517643	0.00002
NM_024685.4(BBS10):c.1804G>C (p.Val602Leu)	rs778431173	0.00001
NM_024685.4(BBS10):c.1091del (p.Asn364fs)	rs727503818
NM_024685.4(BBS10):c.271dup (p.Cys91fs)	rs549625604
NM_024685.4(BBS10):c.943C>T (p.Gln315Ter)	rs1592492255

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