List of variants reported as likely pathogenic for autosomal recessive disease by HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology

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Total variants: 18

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HGVS	dbSNP	gnomAD frequency
NM_001048174.2(MUTYH):c.452A>G (p.Tyr151Cys)	rs34612342	0.00168
NM_000441.2(SLC26A4):c.1003T>C (p.Phe335Leu)	rs111033212	0.00077
NM_001384474.1(LOXHD1):c.6539G>A (p.Gly2180Glu)	rs763915229	0.00006
NM_138694.4(PKHD1):c.5912G>A (p.Gly1971Asp)	rs180675584	0.00006
NM_018161.5(NADSYN1):c.1459C>T (p.Arg487Ter)	rs368115694	0.00003
NM_000370.3(TTPA):c.552G>A (p.Thr184=)	rs181109321	0.00002
NM_020458.4(TTC7A):c.1433T>C (p.Leu478Pro)	rs201100272	0.00002
NM_000070.3(CAPN3):c.1318C>T (p.Arg440Trp)	rs777323132	0.00001
NM_001077365.2(POMT1):c.697_699del (p.Asn233del)	rs761863400	0.00001
NM_014425.5(INVS):c.1789C>T (p.Arg597Ter)	rs755288504	0.00001
NM_020458.4(TTC7A):c.2495C>T (p.Ala832Val)	rs755985958	0.00001
NM_000492.4(CFTR):c.350G>A (p.Arg117His)	rs78655421
NM_001134831.2(AHI1):c.2988del (p.Val997fs)	rs755246809
NM_014425.5(INVS):c.2949dup (p.Lys984fs)	rs1588153872
NM_022168.4(IFIH1):c.1178A>T (p.Asp393Val)	rs587777449
NM_153717.3(EVC):c.393del (p.Asp132fs)	rs1437174284
NM_201378.4(PLEC):c.66C>G (p.Tyr22Ter)	rs2132991341
NM_201384.3(PLEC):c.8149C>T (p.Gln2717Ter)	rs1554686620

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