List of variants reported as likely pathogenic for Short stature-brachydactyly-obesity-global developmental delay syndrome

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Total variants: 18

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HGVS	dbSNP	gnomAD frequency
NM_019023.5(PRMT7):c.1056-1G>T	rs201824659	0.00007
NM_019023.5(PRMT7):c.1490G>A (p.Arg497Gln)	rs753756119	0.00003
NM_019023.5(PRMT7):c.1159A>G (p.Arg387Gly)	rs762515973	0.00001
NM_019023.5(PRMT7):c.1220G>A (p.Cys407Tyr)	rs1313637057	0.00001
NM_019023.5(PRMT7):c.1323+2T>G	rs1339009950	0.00001
NM_019023.5(PRMT7):c.820C>T (p.Arg274Ter)	rs372375423	0.00001
NM_019023.5(PRMT7):c.1055+2T>A
NM_019023.5(PRMT7):c.1074_1075del (p.Arg358fs)	rs763953657
NM_019023.5(PRMT7):c.1283C>G (p.Thr428Arg)
NM_019023.5(PRMT7):c.1335_1338dup (p.His447Ter)	rs2545118734
NM_019023.5(PRMT7):c.1499dup (p.Asp501fs)	rs1567739042
NM_019023.5(PRMT7):c.1707C>G (p.Tyr569Ter)
NM_019023.5(PRMT7):c.282+1G>A	rs768950720
NM_019023.5(PRMT7):c.322G>T (p.Glu108Ter)	rs1014959895
NM_019023.5(PRMT7):c.347T>A (p.Ile116Asn)	rs2151558358
NM_019023.5(PRMT7):c.457dup (p.Glu153fs)	rs2151701931
NM_019023.5(PRMT7):c.927G>T (p.Gln309His)	rs1597361540
NM_019023.5(PRMT7):c.937C>T (p.His313Tyr)	rs2545019503

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