List of variants studied for disorder of metabolite absorption and transport by GenomeConnect, ClinGen

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Total variants: 15

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HGVS	dbSNP	gnomAD frequency
NM_000053.4(ATP7B):c.1607T>C (p.Val536Ala)	rs138427376	0.00342
NM_000053.4(ATP7B):c.3207C>A (p.His1069Gln)	rs76151636	0.00100
NM_015506.3(MMACHC):c.181C>T (p.Arg61Trp)	rs200483477	0.00072
NM_000053.4(ATP7B):c.2921C>T (p.Thr974Met)	rs201061621	0.00032
NM_172250.3(MMAA):c.433C>T (p.Arg145Ter)	rs104893851	0.00017
NM_000053.4(ATP7B):c.2333G>T (p.Arg778Leu)	rs28942074	0.00010
NM_001081.4(CUBN):c.7646C>T (p.Thr2549Met)	rs537292240	0.00009
NM_002454.3(MTRR):c.1573C>T (p.Arg525Ter)	rs147277149	0.00007
NM_018368.4(LMBRD1):c.1438A>G (p.Thr480Ala)	rs138023744	0.00006
NM_018368.4(LMBRD1):c.1510G>T (p.Val504Leu)	rs980145400	0.00006
NM_000053.4(ATP7B):c.3451C>T (p.Arg1151Cys)	rs755554442	0.00004
GRCh37/hg19 3q28(chr3:190114218-190144769)x1
NM_000053.4(ATP7B):c.4092_4093del (p.Ser1365fs)	rs771603301
NM_000053.4(ATP7B):c.778dup (p.Gln260fs)	rs786204570
NM_006580.4(CLDN16):c.148T>G (p.Cys50Gly)	rs1430185772

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