List of variants reported as uncertain significance for autosomal recessive disease by Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India

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Total variants: 19

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HGVS	dbSNP	gnomAD frequency
NM_013382.7(POMT2):c.1364G>A (p.Arg455Gln)	rs757110456	0.00002
NM_013382.7(POMT2):c.512C>T (p.Ser171Leu)	rs750346960	0.00002
NM_014425.5(INVS):c.796+5G>A	rs1272619479	0.00001
NC_000007.14:g.26263639_26335651delinsCA
NM_001101426.4(CRPPA):c.634G>A (p.Glu212Lys)	rs2128312068
NM_001128178.3(NPHP1):c.1352+5G>A	rs1681080526
NM_002700.3(POU4F3):c.675A>T (p.Gln225His)
NM_004813.4(PEX16):c.952+3A>G
NM_005529.7(HSPG2):c.4220A>G (p.Lys1407Arg)
NM_005807.6(PRG4):c.3636G>T (p.Lys1212Asn)	rs1657192119
NM_006846.4(SPINK5):c.1010+7A>G	rs2113105960
NM_015311.3(OBSL1):c.1534+5G>C	rs775172922
NM_015474.4(SAMHD1):c.1634T>G (p.Phe545Cys)	rs1401777461
NM_016058.5(TPRKB):c.89GAA[1] (p.Arg31del)	rs2103862688
NM_032193.4(RNASEH2C):c.398G>A (p.Gly133Asp)	rs2135652409
NM_033629.6(TREX1):c.554G>C (p.Arg185Pro)
NM_138387.4(G6PC3):c.183C>A (p.Ser61Arg)	rs2144135649
NM_138387.4(G6PC3):c.482G>C (p.Arg161Pro)	rs1485073209
NM_144596.4(TTC8):c.265+5G>A	rs2094770219

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