List of variants reported as likely pathogenic for autosomal recessive disease by Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences

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Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NM_001083961.2(WDR62):c.359C>A (p.Ser120Tyr)	rs587784558	0.00001
NM_024649.5(BBS1):c.48-2A>C	rs764245266	0.00001
NM_177965.4(CFAP418):c.130C>T (p.Gln44Ter)	rs751922029	0.00001
NM_000271.5(NPC1):c.1454_1459del (p.Leu485_Asn486del)
NM_001206999.2(CIT):c.367T>G (p.Tyr123Asp)	rs2138306726
NM_004153.4(ORC1):c.313C>T (p.Arg105Trp)	rs778980446
NM_004560.4(ROR2):c.1565_1569delinsTGTA (p.Arg522fs)	rs1587655016
NM_004560.4(ROR2):c.323G>A (p.Arg108Gln)	rs1587690611
NM_006397.3(RNASEH2A):c.320G>A (p.Gly107Glu)	rs2145824951
NM_006397.3(RNASEH2A):c.549+1G>T
NM_033028.5(BBS4):c.210_213del (p.Ile70fs)	rs775928735
NM_152618.3(BBS12):c.250G>A (p.Gly84Arg)	rs1578489760
NM_177965.4(CFAP418):c.240del (p.Ser81fs)	rs1587357327

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