List of variants studied for autosomal recessive multiple pterygium syndrome by Fulgent Genetics, Fulgent Genetics

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Total variants: 11

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HGVS	dbSNP	gnomAD frequency
NM_002470.4(MYH3):c.1575C>T (p.Ile525=)	rs34695778	0.00528
NM_002470.4(MYH3):c.3409C>T (p.Arg1137Cys)	rs12941197	0.00245
NM_005199.5(CHRNG):c.1115C>T (p.Ser372Phe)	rs145433186	0.00160
NM_005199.5(CHRNG):c.753_754del (p.Val253fs)	rs767503038	0.00026
NM_005199.5(CHRNG):c.1421G>A (p.Arg474His)	rs16829216	0.00012
NM_005199.5(CHRNG):c.401_402del (p.Pro134fs)	rs747067203	0.00011
NM_002470.4(MYH3):c.118G>A (p.Val40Met)	rs148637119	0.00010
NM_005199.5(CHRNG):c.1012T>C (p.Ser338Pro)	rs776733115	0.00008
NM_005199.5(CHRNG):c.1145C>T (p.Ser382Leu)	rs774121021	0.00006
NM_005199.5(CHRNG):c.274C>T (p.Arg92Ter)	rs1559302834	0.00001
NM_002470.4(MYH3):c.3138A>C (p.Arg1046=)	rs2285475

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