List of variants reported as pathogenic for autosomal recessive disease by Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS

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Total variants: 25

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HGVS	dbSNP	gnomAD frequency
NM_138694.4(PKHD1):c.107C>T (p.Thr36Met)	rs137852944	0.00048
NM_000543.5(SMPD1):c.605G>A (p.Arg202His)	rs757850587	0.00004
NM_000543.5(SMPD1):c.1252C>T (p.Arg418Ter)	rs755160837	0.00001
NM_000543.5(SMPD1):c.1267C>T (p.His423Tyr)	rs120074126	0.00001
NM_000543.5(SMPD1):c.1529C>T (p.Ser510Phe)	rs200652683	0.00001
NM_001378454.1(ALMS1):c.2819T>A (p.Leu940Ter)	rs539612316	0.00001
NM_004560.4(ROR2):c.1324C>T (p.Arg442Ter)	rs267607016	0.00001
NM_000543.5(SMPD1):c.1071_1081del (p.Glu358fs)	rs2134013240
NM_000543.5(SMPD1):c.1088T>G (p.Leu363Arg)	rs2134013368
NM_000543.5(SMPD1):c.1151del (p.Met384fs)	rs2134017306
NM_000543.5(SMPD1):c.1171A>C (p.Asn391His)	rs2134017443
NM_000543.5(SMPD1):c.1598C>A (p.Pro533Gln)	rs199915216
NM_000543.5(SMPD1):c.1699C>T (p.Gln567Ter)	rs943865463
NM_000543.5(SMPD1):c.1817del (p.Pro606fs)	rs1554935746
NM_000543.5(SMPD1):c.257G>A (p.Trp86Ter)	rs2134006592
NM_000543.5(SMPD1):c.314T>C (p.Leu105Pro)	rs751269562
NM_000543.5(SMPD1):c.504dup (p.His169fs)	rs2134009550
NM_000543.5(SMPD1):c.505dup (p.His169fs)	rs781535659
NM_000543.5(SMPD1):c.518dup (p.Ser174fs)	rs786204733
NM_000543.5(SMPD1):c.647T>G (p.Leu216Arg)	rs1590738910
NM_000543.5(SMPD1):c.668G>C (p.Cys223Ser)	rs2134010914
NM_000543.5(SMPD1):c.933_936delinsGAC (p.Val312fs)	rs2134012543
NM_001083961.2(WDR62):c.669del (p.Trp224fs)	rs1599760058
NM_018451.5(CENPJ):c.3309dup (p.Pro1104fs)	rs1131691823
NM_144596.4(TTC8):c.114+2T>C	rs1273244823

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