List of variants reported as uncertain significance for autosomal recessive disease by Provincial Medical Genetics Program of British Columbia, University of British Columbia

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Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_025114.4(CEP290):c.3660G>T (p.Lys1220Asn)	rs201982308	0.00024
NM_025114.4(CEP290):c.6628C>T (p.Arg2210Cys)	rs374852145	0.00024
NM_024298.5(MBOAT7):c.497C>T (p.Pro166Leu)	rs1233952774	0.00002
NM_002470.4(MYH3):c.1986_1990del (p.Asn662fs)	rs771300756
NM_002470.4(MYH3):c.5457G>C (p.Arg1819Ser)	rs2142378109
NM_024298.5(MBOAT7):c.971_985del (p.Val324_Leu328del)	rs2146977904
NM_174916.3(UBR1):c.2273G>A (p.Gly758Glu)	rs1131691524

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