List of variants studied for homocystinuria by Institute of Human Genetics, University of Leipzig Medical Center

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Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_015506.3(MMACHC):c.271dup (p.Arg91fs)	rs398124292	0.00093
NM_005050.4(ABCD4):c.1465G>A (p.Asp489Asn)	rs139901585	0.00022
NM_000071.3(CBS):c.341C>T (p.Ala114Val)	rs121964964	0.00004
NM_005334.3(HCFC1):c.1030C>T (p.Arg344Cys)	rs2065417308
NM_005334.3(HCFC1):c.4983_4988del (p.Val1662_Thr1663del)	rs1275942023
NM_005957.5(MTHFR):c.199C>T (p.Pro67Ser)	rs1644422806
NM_005957.5(MTHFR):c.475+1G>T	rs748397580
NM_015506.3(MMACHC):c.545G>A (p.Cys182Tyr)	rs372010149
NM_015506.3(MMACHC):c.658_660del (p.Lys220del)	rs398124296

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