List of variants reported as not provided for chromosomal disorder by GenomeConnect, ClinGen

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		ClinVar version:

Total variants: 30

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HGVS	dbSNP	gnomAD frequency
NM_001378120.1(MBD5):c.1382G>A (p.Arg461His)	rs139964770	0.00042
NM_000501.4(ELN):c.92G>A (p.Gly31Glu)	rs782625771	0.00004
NM_030665.4(RAI1):c.3478C>T (p.Arg1160Trp)	rs761044841	0.00001
GRCh37/hg19 13q34(chr13:115054475-115107733)x1
GRCh37/hg19 15q11.2(chr15:22770421-23282799)x1
GRCh37/hg19 15q13.2-13.3(chr15:31108661-32446830)x1
GRCh37/hg19 16p11.2(chr16:29567295-30320307)x1
GRCh37/hg19 16p11.2(chr16:29591078-30177240)x3
GRCh37/hg19 16p11.2(chr16:29651706-30193525)x1
GRCh37/hg19 16p11.2(chr16:29670770-30207956)x3
GRCh37/hg19 16p13.11(chr16:15154115-16276115)
GRCh37/hg19 16p13.11-12.3(chr16:15494600-18141051)x1
GRCh37/hg19 17p12-11.2(chr17:12524223-16047567)x1
GRCh37/hg19 17p13.3(chr17:1041555-1576875)x3
GRCh37/hg19 1q21.1-21.2(chr1:146542843-147857135)x1
GRCh37/hg19 7q11.23(chr7:73475600-73478833)x1
GRCh37/hg19 Xq26.3(chrX:136647475-136892054)x3
GRCh37/hg19 Xq28(chrX:154124170-154528181)x3
NM_000304.4(PMP22):c.362A>G (p.His121Arg)	rs1567698985
NM_001002295.2(GATA3):c.1058G>C (p.Arg353Thr)	rs1564405163
NM_001042424.3(NSD2):c.2826_2827dup (p.Asp943fs)
NM_001110792.2(MECP2):c.413+5G>A	rs2148666320
NM_001256447.2(BCAP31):c.341+2T>G	rs1064794057
NM_002397.5(MEF2C):c.411del (p.Pro138fs)	rs1581753788
NM_002397.5(MEF2C):c.413del (p.Pro138fs)	rs1581753587
NM_002397.5(MEF2C):c.68A>G (p.Lys23Arg)	rs797045053
NM_019066.5(MAGEL2):c.1601del (p.Pro534fs)	rs1890397401
NM_078480.3(PUF60):c.478_479del (p.Met160fs)	rs1554643473
NM_078480.3(PUF60):c.503_509del (p.Lys168fs)	rs1563825893
Single allele

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