List of variants in gene EFHC1 reported as uncertain significance by GeneDx

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 41

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HGVS	dbSNP	gnomAD frequency
NM_018100.4(EFHC1):c.661C>T (p.Arg221Cys)	rs139197513	0.00019
NM_018100.4(EFHC1):c.911A>G (p.Asn304Ser)	rs142107827	0.00019
NM_018100.4(EFHC1):c.1057C>T (p.Arg353Trp)	rs527295360	0.00017
NM_018100.4(EFHC1):c.731G>A (p.Arg244Gln)	rs140476054	0.00013
NM_018100.4(EFHC1):c.817G>T (p.Val273Leu)	rs369926953	0.00011
NM_018100.4(EFHC1):c.1370G>T (p.Arg457Leu)	rs369468811	0.00010
NM_018100.4(EFHC1):c.1385T>C (p.Ile462Thr)	rs200116252	0.00009
NM_018100.4(EFHC1):c.574G>A (p.Val192Ile)	rs781665913	0.00009
NM_018100.4(EFHC1):c.1058G>A (p.Arg353Gln)	rs377732929	0.00008
NM_018100.4(EFHC1):c.779G>A (p.Arg260Gln)	rs145754721	0.00008
NM_018100.4(EFHC1):c.89C>T (p.Thr30Met)	rs200435907	0.00008
NM_018100.4(EFHC1):c.1306C>T (p.Arg436Cys)	rs377286138	0.00007
NM_018100.4(EFHC1):c.344A>G (p.Tyr115Cys)	rs371610025	0.00007
NM_018100.4(EFHC1):c.1856T>G (p.Ile619Ser)	rs142458862	0.00006
NM_018100.4(EFHC1):c.151C>T (p.Arg51Trp)	rs374661645	0.00005
NM_018100.4(EFHC1):c.724-14T>A	rs756262882	0.00005
NM_018100.4(EFHC1):c.810T>G (p.Asp270Glu)	rs796052413	0.00004
NM_018100.4(EFHC1):c.1114C>T (p.Arg372Trp)	rs371151471	0.00003
NM_018100.4(EFHC1):c.1765G>A (p.Glu589Lys)	rs201197637	0.00003
NM_018100.4(EFHC1):c.1907G>A (p.Arg636His)	rs745406233	0.00003
NM_018100.4(EFHC1):c.1454A>G (p.Tyr485Cys)	rs534797617	0.00002
NM_018100.4(EFHC1):c.19C>G (p.His7Asp)	rs796052419	0.00002
NM_018100.4(EFHC1):c.266A>G (p.His89Arg)	rs543160745	0.00002
NM_018100.4(EFHC1):c.1144C>T (p.Pro382Ser)	rs566874147	0.00001
NM_018100.4(EFHC1):c.1187A>G (p.Asn396Ser)	rs745982377	0.00001
NM_018100.4(EFHC1):c.1547T>C (p.Met516Thr)	rs372520849	0.00001
NM_018100.4(EFHC1):c.1612C>T (p.Arg538Ter)	rs149998588	0.00001
NM_018100.4(EFHC1):c.1892A>G (p.Tyr631Cys)	rs574948354	0.00001
NM_018100.4(EFHC1):c.22G>C (p.Gly8Arg)	rs200510672	0.00001
NM_018100.4(EFHC1):c.680C>T (p.Ser227Leu)	rs796052412	0.00001
NM_018100.4(EFHC1):c.68C>T (p.Thr23Ile)	rs779993809	0.00001
GRCh37/hg19 6p12.2(chr6:52302945-52319369)x3
NM_018100.4(EFHC1):c.1172A>G (p.Glu391Gly)	rs796052417
NM_018100.4(EFHC1):c.1270G>T (p.Ala424Ser)	rs796052418
NM_018100.4(EFHC1):c.1443C>A (p.Asn481Lys)	rs186911667
NM_018100.4(EFHC1):c.1763A>G (p.Lys588Arg)	rs1554262192
NM_018100.4(EFHC1):c.63+2T>C	rs796052420
NM_018100.4(EFHC1):c.826C>G (p.Arg276Gly)	rs796052414
NM_018100.4(EFHC1):c.84T>A (p.Ser28Arg)	rs796052415
NM_018100.4(EFHC1):c.922T>A (p.Phe308Ile)	rs796052416
NM_018100.4(EFHC1):c.943A>T (p.Ile315Phe)	rs1057521631

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