Variants with conflicting interpretations "pathogenic" from Sbielas Lab-Department of Human Genetics University of Michigan, University of Michigan Medical School and "likely pathogenic" from any submitter

Minimum review status of the submission from Sbielas Lab-Department of Human Genetics University of Michigan, University of Michigan Medical School:		Collection method of the submission from Sbielas Lab-Department of Human Genetics University of Michigan, University of Michigan Medical School:
Minimum review status of the other submission:		Collection method of the other submission:
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants with conflicting interpretations: 16

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HGVS	dbSNP	gnomAD frequency
NM_017780.4(CHD7):c.1342_1343del (p.Arg448fs)	rs1554581674
NM_017780.4(CHD7):c.2440C>T (p.Gln814Ter)	rs1554593049
NM_017780.4(CHD7):c.2915A>G (p.Gln972Arg)	rs1554597512
NM_017780.4(CHD7):c.3106C>T (p.Arg1036Ter)	rs1554597716
NM_017780.4(CHD7):c.3205C>T (p.Arg1069Ter)	rs886040985
NM_017780.4(CHD7):c.3209del (p.Val1070fs)	rs1554597952
NM_017780.4(CHD7):c.3606_3616dup (p.Ile1206fs)	rs1554599462
NM_017780.4(CHD7):c.4480C>T (p.Arg1494Ter)	rs587783442
NM_017780.4(CHD7):c.4835del (p.Asn1612fs)	rs1554601654
NM_017780.4(CHD7):c.5210+2T>C	rs1554602587
NM_017780.4(CHD7):c.5355G>A (p.Trp1785Ter)	rs1554603276
NM_017780.4(CHD7):c.5409T>G (p.Tyr1803Ter)	rs1021645395
NM_017780.4(CHD7):c.6079C>T (p.Arg2027Ter)	rs886040995
NM_017780.4(CHD7):c.7802dup (p.Tyr2601Ter)	rs886040998
NM_017780.4(CHD7):c.925C>T (p.Gln309Ter)	rs1436515577
NM_078480.3(PUF60):c.389G>A (p.Arg130His)	rs1554643584

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